ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.644+9C>T

gnomAD frequency: 0.00002  dbSNP: rs754404940
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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) RCV000728775 SCV000856388 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080038 SCV001000781 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816795 SCV002065360 likely benign not specified 2021-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733024 SCV005363087 likely benign MKS1-related disorder 2022-08-18 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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