ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1317G>A (p.Leu439=)

gnomAD frequency: 0.00001  dbSNP: rs757592722
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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 RCV001504457 SCV001709334 likely benign Aortic aneurysm, familial thoracic 8 2024-06-09 criteria provided, single submitter clinical testing

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