ClinVar Miner

Submissions for variant NM_006172.4(NPPA):c.390C>T (p.Cys130=)

gnomAD frequency: 0.00006  dbSNP: rs774295577
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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 RCV001471930 SCV001676053 likely benign Atrial fibrillation, familial, 6 2023-05-04 criteria provided, single submitter clinical testing

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