ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)

gnomAD frequency: 0.00003  dbSNP: rs778882385
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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 RCV003760348 SCV004530632 likely benign Rubinstein-Taybi syndrome 2024-08-05 criteria provided, single submitter clinical testing

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