ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)

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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 RCV003092407 SCV003478087 benign Rubinstein-Taybi syndrome 2024-06-03 criteria provided, single submitter clinical testing

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