ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.411G>A (p.Leu137=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002715656 SCV002999535 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534171 SCV004741054 likely benign MKS1-related disorder 2021-08-26 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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