ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)

gnomAD frequency: 0.00010  dbSNP: rs371944986
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002145546 SCV002425427 likely benign Familial aplasia of the vermis 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508048 SCV002805405 likely benign Joubert syndrome 3 2021-07-04 criteria provided, single submitter clinical testing

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