ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.524dup (p.Pro176fs) (rs1327062642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Australian Inherited Retinal Disease Registry & DNA Bank,Sir Charles Gairdner Hospital RCV000659268 SCV000778531 pathogenic Leber congenital amaurosis 1 2017-11-02 criteria provided, single submitter research Detected in an isolate case due to uniparental isodisomy, and the genotype is consistent with the retinal disease phenotype

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