ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln)

gnomAD frequency: 0.00006  dbSNP: rs780823419
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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 RCV001922449 SCV002171032 likely benign Familial aplasia of the vermis 2024-08-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693905 SCV005189258 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV005038461 SCV005668997 likely benign Joubert syndrome 3 2024-03-05 criteria provided, single submitter clinical testing

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