ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.799-19del

dbSNP: rs2141347625
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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 RCV002088884 SCV002437160 likely benign Rubinstein-Taybi syndrome 2021-11-29 criteria provided, single submitter clinical testing

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