ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn)

dbSNP: rs104894633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002054412 SCV002405143 benign not provided 2022-02-05 criteria provided, single submitter clinical testing
OMIM RCV000003083 SCV000023241 pathogenic Smith-Magenis syndrome 2005-11-01 no assertion criteria provided literature only

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