ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)

dbSNP: rs1598089943
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985107 SCV001133077 likely pathogenic Smith-Magenis syndrome 2019-09-26 no assertion criteria provided clinical testing

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