ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)

dbSNP: rs121434348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058641 SCV001223227 pathogenic Joubert syndrome 2021-08-27 criteria provided, single submitter clinical testing
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV000002087 SCV001571488 pathogenic Joubert syndrome 3 criteria provided, single submitter provider interpretation Observed in conjunction with c.2492+5G>A (induces abnormal splicing); compound heterozygous variants in AHI1 are consistent with autosomal recessive Joubert syndrome. This has also been previously reported as Pathogenic (VCV000002010)
OMIM RCV000002087 SCV000022245 pathogenic Joubert syndrome 3 2004-09-01 no assertion criteria provided literature only

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