NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Sep 26, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000342783.11
Allele description [Variation Report for NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)]
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000332008 | Eurofins Ntd Llc (ga) | flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015) | Uncertain significance (Jul 2, 2015) | germline | clinical testing |
Last Updated: Sep 29, 2024