ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1210C>T (p.Leu404=)

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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 RCV003787403 SCV004576421 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733641 SCV005355198 likely benign MKS1-related disorder 2024-09-26 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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