NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) AND not provided
- Germline classification:
- Uncertain significance (5 submissions)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000587104.20
Allele description [Variation Report for NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)]
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Burkholderia pseudomallei strain 5263STDY7401766, whole genome shotgun sequencin...
Burkholderia pseudomallei strain 5263STDY7401766, whole genome shotgun sequencing projectgi|2598211591|emb|CAUXEZ000000000.1 EZ010000000Nucleotide
-
Burkholderia pseudomallei strain 5263STDY7401990, whole genome shotgun sequencin...
Burkholderia pseudomallei strain 5263STDY7401990, whole genome shotgun sequencing projectgi|2596751070|emb|CAUWSB000000000.1 SB010000000Nucleotide
-
Burkholderia pseudomallei strain 5263STDY7401633, whole genome shotgun sequencin...
Burkholderia pseudomallei strain 5263STDY7401633, whole genome shotgun sequencing projectgi|2597892096|emb|CAUXAN000000000.1 AN010000000Nucleotide
-
Burkholderia pseudomallei strain 5263STDY7401837, whole genome shotgun sequencin...
Burkholderia pseudomallei strain 5263STDY7401837, whole genome shotgun sequencing projectgi|2597080936|emb|CAUWXJ000000000.1 XJ010000000Nucleotide
-
Burkholderia pseudomallei strain 5263STDY7401599, whole genome shotgun sequencin...
Burkholderia pseudomallei strain 5263STDY7401599, whole genome shotgun sequencing projectgi|2596613898|emb|CAUWRO000000000.1 RO010000000Nucleotide
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002015572 | GeneDx | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (GeneDx Variant Classification Process June 2021) | Likely pathogenic (Jul 7, 2023) | germline | clinical testing |
Last Updated: May 7, 2024