ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1032C>T (p.Pro344=)

gnomAD frequency: 0.00001  dbSNP: rs1439239512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427026 SCV001629698 likely benign Rubinstein-Taybi syndrome 2022-09-01 criteria provided, single submitter clinical testing

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