ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.83G>A (p.Arg28His)

gnomAD frequency: 0.00004  dbSNP: rs36115433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522733 SCV000620374 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476066 SCV002797069 uncertain significance Joubert syndrome 3 2022-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528251 SCV003009161 likely benign Familial aplasia of the vermis 2024-01-07 criteria provided, single submitter clinical testing

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