ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.845dup (p.Leu283fs)

dbSNP: rs1555801973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624552 SCV000741744 pathogenic Inborn genetic diseases 2016-08-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003471976 SCV004194887 likely pathogenic Bardet-Biedl syndrome 6 2023-07-18 criteria provided, single submitter clinical testing

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