ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs) (rs1554519422)

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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 RCV000659269 SCV000778532 uncertain significance Leber congenital amaurosis 1 2017-11-30 criteria provided, single submitter research Detected in an unaffected mother, and in an affected individual with another genetic cause for disease; not considered primary cause of disease

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