ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)

gnomAD frequency: 0.00041  dbSNP: rs199708272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001151587 SCV001312721 likely benign Joubert syndrome 3 2017-04-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062247 SCV002447369 likely benign Familial aplasia of the vermis 2021-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001151587 SCV002806381 likely benign Joubert syndrome 3 2021-10-23 criteria provided, single submitter clinical testing

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