ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4673dup (p.Arg1559fs)

dbSNP: rs1555566042
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000578245 SCV000680108 pathogenic Smith-Magenis syndrome 2017-06-30 no assertion criteria provided clinical testing

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