ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5439G>T (p.Val1813=)

gnomAD frequency: 0.00001  dbSNP: rs886063678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297961 SCV000478598 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001718789 SCV000520794 likely benign not provided 2021-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314095 SCV000738613 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-05-27 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 RCV002524591 SCV003524315 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-02-06 criteria provided, single submitter clinical testing

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