ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2169G>A (p.Arg723=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002857526 SCV003226331 likely benign Familial aplasia of the vermis 2022-08-09 criteria provided, single submitter clinical testing

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