ClinVar Miner

Submissions for variant NM_000283.3(PDE6B):c.1670A>G (p.His557Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV000850087 SCV000992252 likely pathogenic Rod-cone dystrophy 2018-07-30 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787860 SCV000926876 likely pathogenic Progressive cone dystrophy (without rod involvement) 2018-04-01 no assertion criteria provided research

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