ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.136-8C>T

gnomAD frequency: 0.00021  dbSNP: rs370834009
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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 RCV001441650 SCV001644581 likely benign Familial aplasia of the vermis 2021-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501288 SCV002804624 likely benign Joubert syndrome 3 2022-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895293 SCV004714179 likely benign AHI1-related disorder 2020-10-12 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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