ClinVar Miner

Submissions for variant NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)

gnomAD frequency: 0.00102  dbSNP: rs371597026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591813 SCV000702391 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV000591813 SCV001047686 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279372 SCV002566945 uncertain significance Connective tissue disorder 2021-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925771 SCV004742101 likely benign NKX3-2-related condition 2020-01-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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