ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4729-14G>A

dbSNP: rs130008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176937 SCV000228716 uncertain significance not provided 2014-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000176937 SCV001943548 benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054084 SCV002492760 benign Rubinstein-Taybi syndrome 2024-01-25 criteria provided, single submitter clinical testing

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