ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.248-2A>G (rs62638633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000787714 SCV001141817 pathogenic Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Retina International RCV000085084 SCV000117221 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787714 SCV000926706 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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