ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1905+500_1905+501del (rs398122960)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622673 SCV000743013 likely pathogenic Inborn genetic diseases 2017-10-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000076907 SCV000890876 pathogenic Retinitis pigmentosa 15 2017-10-11 criteria provided, single submitter clinical testing
OMIM RCV000076907 SCV000108704 pathogenic Retinitis pigmentosa 15 2013-10-01 no assertion criteria provided literature only

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