ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2911A>G (p.Arg971Gly)

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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 RCV005192754 SCV005819938 benign Rubinstein-Taybi syndrome 2024-09-27 criteria provided, single submitter clinical testing

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