ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)

gnomAD frequency: 0.00115  dbSNP: rs72554029
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030336 SCV000053003 likely benign Atrial septal defect 7 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000030336 SCV000288515 benign Atrial septal defect 7 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000301072 SCV000342973 likely benign not specified 2016-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000301072 SCV000516622 likely benign not specified 2018-02-12 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.
Ambry Genetics RCV000617707 SCV000735245 likely benign Cardiovascular phenotype 2015-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003389673 SCV001500861 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing NKX2-5: BP4, BP7

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