ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3837-8C>T

gnomAD frequency: 0.15061  dbSNP: rs3025684
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081050 SCV000112957 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081050 SCV000192866 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081050 SCV000310301 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515137 SCV001723141 benign Rubinstein-Taybi syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001711192 SCV001943542 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711192 SCV005295930 benign not provided criteria provided, single submitter not provided

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