ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1059A>G (p.Ala353=)

gnomAD frequency: 0.00001  dbSNP: rs768799434
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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 RCV001419776 SCV001622037 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531280 SCV004752737 likely benign MKKS-related disorder 2023-01-04 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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