ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3329-20A>G

gnomAD frequency: 0.00004  dbSNP: rs1004117268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002162949 SCV002417401 likely benign Familial aplasia of the vermis 2024-12-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494316 SCV002802955 likely benign Joubert syndrome 3 2022-05-16 criteria provided, single submitter clinical testing

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