ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)

gnomAD frequency: 0.00009  dbSNP: rs370400336
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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 RCV000863175 SCV001003786 likely benign Familial aplasia of the vermis 2024-12-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154605 SCV001315981 likely benign Joubert syndrome 3 2017-11-06 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003965663 SCV004784807 likely benign AHI1-related disorder 2021-12-24 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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