ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.684G>A (p.Ser228=)

gnomAD frequency: 0.00008  dbSNP: rs139705205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231312 SCV000631552 benign Ehlers-Danlos syndrome, classic type, 1 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001653891 SCV001861674 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279341 SCV002565788 uncertain significance Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367798 SCV002664642 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488666 SCV004241192 benign not specified 2023-12-17 criteria provided, single submitter clinical testing

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