NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) AND not provided
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Aug 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000725743.44
Allele description [Variation Report for NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)]
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
developmentally regulated GTP binding protein 2, isoform CRA_c, partial [Homo sa...
developmentally regulated GTP binding protein 2, isoform CRA_c, partial [Homo sapiens]gi|119576075|gb|EAW55671.1||gnl|WGS |hCP1918179Protein
-
voltage-dependent calcium channel gamma-5 subunit [Mus musculus]
voltage-dependent calcium channel gamma-5 subunit [Mus musculus]gi|21687006|ref|NP_542375.1|Protein
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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 |
---|---|---|---|---|---|---|
SCV000339116 | Eurofins Ntd Llc (ga) | flagged submission Reason: Claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015) | Uncertain significance (Feb 3, 2016) | germline | clinical testing |
Last Updated: Oct 26, 2024