ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.959-8T>G

gnomAD frequency: 0.00001  dbSNP: rs763444295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381137 SCV000333245 uncertain significance not provided 2015-07-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001492999 SCV001697619 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542996 SCV004771244 likely benign MKS1-related disorder 2021-03-31 no assertion criteria provided 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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