ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1743C>T (p.Pro581=)

gnomAD frequency: 0.00004  dbSNP: rs140229974
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417869 SCV001620075 likely benign Ehlers-Danlos syndrome, type 4 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524032 SCV001733790 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001417869 SCV004824792 likely benign Ehlers-Danlos syndrome, type 4 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524032 SCV005032290 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-25 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.
CeGaT Center for Human Genetics Tuebingen RCV004597997 SCV005093605 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing COL3A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004540286 SCV004772875 likely benign COL3A1-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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