ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) (rs121434350)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162132 SCV000196417 likely pathogenic Global developmental delay; Typical Joubert syndrome MRI findings 2014-12-01 no assertion criteria provided research
OMIM RCV000002089 SCV000022247 pathogenic Joubert syndrome 3 2013-05-10 no assertion criteria provided literature only

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