ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1572G>A (p.Thr524=)

gnomAD frequency: 0.00009  dbSNP: rs746398873
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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) RCV000596209 SCV000708864 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV002532652 SCV001047269 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000596209 SCV001826416 likely benign not provided 2020-11-14 criteria provided, single submitter clinical testing

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