ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)

gnomAD frequency: 0.00001  dbSNP: rs563033919
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034509 SCV001197867 benign Rubinstein-Taybi syndrome 2019-09-12 criteria provided, single submitter clinical testing

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