ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.30A>T (p.Ser10=)

gnomAD frequency: 0.00001  dbSNP: rs752207403
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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 RCV001402760 SCV001604614 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-09-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734174 SCV005357553 likely benign MKKS-related disorder 2021-09-01 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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