ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1360C>T (p.Leu454=)

gnomAD frequency: 0.00001  dbSNP: rs1210784201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002209287 SCV002356386 likely benign Bardet-Biedl syndrome; McKusick-Kaufman syndrome 2023-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494104 SCV002798009 likely benign McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2021-10-06 criteria provided, single submitter clinical testing

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