ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.996G>A (p.Pro332=)

gnomAD frequency: 0.00002  dbSNP: rs765587432
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001391711 SCV001593335 likely benign Familial aplasia of the vermis 2024-03-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706091 SCV005227744 likely benign not provided criteria provided, single submitter not provided

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