ClinVar Miner

Submissions for variant NM_170784.3(MKKS):c.1235G>T (p.Cys412Phe)

dbSNP: rs1396840386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000782279 SCV000897990 likely pathogenic Bardet-Biedl syndrome 2018-10-01 criteria provided, single submitter clinical testing

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