ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.969C>T (p.Asp323=)

gnomAD frequency: 0.00002  dbSNP: rs779278835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182518 SCV001347984 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV002068318 SCV002479096 likely benign Ehlers-Danlos syndrome, type 4 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182518 SCV002694274 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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