ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1041T>C (p.Ser347=)

gnomAD frequency: 0.00001  dbSNP: rs540410515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001464288 SCV001668254 likely benign Aortic aneurysm, familial thoracic 8 2022-07-05 criteria provided, single submitter clinical testing

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