ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1533T>G (p.Val511=)

gnomAD frequency: 0.00058  dbSNP: rs373669500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429239 SCV000529454 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000468650 SCV000558467 likely benign Familial aplasia of the vermis 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488945 SCV002796263 likely benign Joubert syndrome 3 2022-01-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002488945 SCV003823068 uncertain significance Joubert syndrome 3 2022-01-05 criteria provided, single submitter clinical testing

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