ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp)

dbSNP: rs2143002559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839138 SCV002099058 uncertain significance Smith-Magenis syndrome 2021-03-05 criteria provided, single submitter clinical testing

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