ClinVar Miner

Submissions for variant NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)

gnomAD frequency: 0.01783  dbSNP: rs61749320
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548079 SCV000641945 benign Conotruncal heart malformations 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001613355 SCV001841574 benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488673 SCV004241666 benign not specified 2023-12-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613355 SCV005268940 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003935458 SCV004752689 benign NKX2-6-related disorder 2019-09-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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