ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7221A>G (p.Ser2407=)

dbSNP: rs964396023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592925 SCV000706008 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV002532507 SCV002998357 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-09 criteria provided, single submitter clinical testing

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