ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1860A>T (p.Pro620=)

gnomAD frequency: 0.00002  dbSNP: rs141128796
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182818 SCV001348413 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811686 SCV001470838 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182818 SCV002724095 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559811 SCV003294317 likely benign Ehlers-Danlos syndrome, type 4 2023-11-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002559811 SCV004833051 likely benign Ehlers-Danlos syndrome, type 4 2023-08-14 criteria provided, single submitter clinical testing

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