ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.729C>T (p.Val243=)

gnomAD frequency: 0.00028  dbSNP: rs370392354
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860739 SCV001000881 likely benign Familial aplasia of the vermis 2025-01-07 criteria provided, single submitter clinical testing

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