ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)

dbSNP: rs749161149
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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 RCV003760169 SCV004513376 likely benign Rubinstein-Taybi syndrome 2023-12-13 criteria provided, single submitter clinical testing

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