ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1686T>C (p.His562=)

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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 RCV002970659 SCV003281540 likely benign Familial aplasia of the vermis 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434538 SCV004160346 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing AHI1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003984310 SCV004796600 likely benign AHI1-related disorder 2019-04-12 criteria provided, single submitter 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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