ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.395C>T (p.Thr132Met)

gnomAD frequency: 0.00011  dbSNP: rs756217962
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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 RCV001324809 SCV001515775 likely benign Familial aplasia of the vermis 2024-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038079 SCV005666373 uncertain significance Joubert syndrome 3 2024-03-02 criteria provided, single submitter clinical testing

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