ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)

gnomAD frequency: 0.00002  dbSNP: rs758454751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156397 SCV002477040 likely benign Rubinstein-Taybi syndrome 2022-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494496 SCV002795527 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978876 SCV004786453 likely benign CREBBP-related disorder 2023-11-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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