ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1281T>C (p.Asn427=)

gnomAD frequency: 0.00004  dbSNP: rs759903519
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002111680 SCV002392806 likely benign Familial aplasia of the vermis 2024-04-29 criteria provided, single submitter clinical testing

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