ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2373+10C>A

dbSNP: rs2128016462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001472778 SCV001676916 likely benign Familial aplasia of the vermis 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930980 SCV004739950 likely benign AHI1-related disorder 2019-05-20 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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