ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.510C>A (p.Asp170Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005029276 SCV005656780 uncertain significance SMARCB1-related schwannomatosis; Rhabdoid tumor predisposition syndrome 1; Intellectual disability, autosomal dominant 15 2023-12-29 criteria provided, single submitter clinical testing

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