ClinVar Miner

Submissions for variant NM_001003694.2(BRPF1):c.1748C>T (p.Ala583Val)

gnomAD frequency: 0.00001  dbSNP: rs1449069293
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329450 SCV001520897 uncertain significance Intellectual developmental disorder with dysmorphic facies and ptosis 2023-10-03 criteria provided, single submitter clinical testing

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