ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)

gnomAD frequency: 0.00681  dbSNP: rs77612903
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127213 SCV000170767 benign not specified 2014-05-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000127213 SCV000248256 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000229498 SCV000288520 benign Atrial septal defect 7 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000127213 SCV000706350 benign not specified 2017-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618273 SCV000735340 benign Cardiovascular phenotype 2016-03-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736598 SCV004564071 benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000127213 SCV001924961 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000127213 SCV001973145 benign not specified no assertion criteria provided clinical testing

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