ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2240C>T (p.Pro747Leu)

gnomAD frequency: 0.00019  dbSNP: rs193026103
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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) RCV000174298 SCV000225577 likely benign not specified 2015-06-03 criteria provided, single submitter clinical testing
Invitae RCV003525869 SCV001037255 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001668332 SCV001885128 benign not provided 2020-02-27 criteria provided, single submitter clinical testing

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