ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2961+16G>A

dbSNP: rs199671265
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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 RCV001451257 SCV001654884 likely benign Familial aplasia of the vermis 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707607 SCV005227725 likely benign not provided criteria provided, single submitter not provided

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