ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=)

gnomAD frequency: 0.00003  dbSNP: rs760426595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231693 SCV001691054 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341286 SCV002634663 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-07-31 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.
GeneDx RCV000526238 SCV003853059 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323593 SCV004029170 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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