ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)

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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 RCV002599883 SCV003501895 benign Rubinstein-Taybi syndrome 2024-06-18 criteria provided, single submitter clinical testing

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