ClinVar Miner

Submissions for variant NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del)

dbSNP: rs3832799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503940 SCV002808151 likely benign Phenylketonuria 2022-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757982 SCV000310093 likely benign ASCL1-related disorder 2024-08-21 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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