ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.1109-4A>G

gnomAD frequency: 0.00182  dbSNP: rs199872853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884942 SCV001028352 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948356 SCV004772587 likely benign CAD-related disorder 2019-04-05 criteria provided, single submitter 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).
Breakthrough Genomics, Breakthrough Genomics RCV000884942 SCV005263219 likely benign not provided criteria provided, single submitter not provided

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