ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1274-4G>T

dbSNP: rs377033778
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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 RCV000866108 SCV001007158 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540194 SCV004796296 likely benign MKS1-related disorder 2022-04-06 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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