ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.300C>A (p.Pro100=)

gnomAD frequency: 0.00001  dbSNP: rs767243751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644452 SCV000766148 benign Atrial septal defect 7 2023-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440306 SCV002753753 likely benign Cardiovascular phenotype 2021-07-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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