ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs)

dbSNP: rs1164577355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003446786 SCV004174069 pathogenic MEGF8-related Carpenter syndrome no assertion criteria provided clinical testing

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