ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2393G>A (p.Ser798Asn)

gnomAD frequency: 0.00003  dbSNP: rs781326261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003527632 SCV004318626 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-13 criteria provided, single submitter clinical testing

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