ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1299C>G (p.Leu433=)

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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 RCV003799618 SCV004584977 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2022-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723484 SCV005336682 likely benign MKKS-related disorder 2024-08-21 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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