ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2374-12del

dbSNP: rs766929085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244677 SCV000312870 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509941 SCV001716857 benign Familial aplasia of the vermis 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494751 SCV002798956 likely benign Joubert syndrome 3 2022-04-28 criteria provided, single submitter clinical testing

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