ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)

dbSNP: rs74315397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472255 SCV004194898 pathogenic Bardet-Biedl syndrome 6 2023-03-15 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735914 SCV000839545 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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