ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.1083A>G (p.Thr361=)

gnomAD frequency: 0.00470  dbSNP: rs138694613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886946 SCV001030477 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886946 SCV001152201 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CAD: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000886946 SCV005263218 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003940566 SCV004751589 benign CAD-related disorder 2019-10-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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