ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1233T>C (p.Arg411=)

gnomAD frequency: 0.00002  dbSNP: rs201128765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868782 SCV001010152 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830904 SCV002087626 likely benign Meckel syndrome, type 1 2021-06-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538277 SCV004735328 likely benign MKS1-related disorder 2021-06-18 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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