ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)

gnomAD frequency: 0.00013  dbSNP: rs201220788
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721133 SCV000233379 likely benign not provided 2020-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001190473 SCV000738538 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-12 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 RCV000634727 SCV000756067 likely benign Ehlers-Danlos syndrome, type 4 2023-10-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190473 SCV001357973 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721133 SCV004702096 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing COL3A1: PM2

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