ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.444G>A (p.Ala148=)

gnomAD frequency: 0.00001  dbSNP: rs776529245
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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 RCV001467117 SCV001671136 likely benign Atrial septal defect 7 2018-03-01 criteria provided, single submitter clinical testing

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