ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)

gnomAD frequency: 0.00004  dbSNP: rs748072121
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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 RCV003594053 SCV001060690 likely benign Rubinstein-Taybi syndrome 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495518 SCV002801040 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978002 SCV004795047 likely benign CREBBP-related disorder 2022-05-16 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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