ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) (rs80338904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002458 SCV000022616 pathogenic Retinitis pigmentosa 39 2007-02-01 no assertion criteria provided literature only
GeneReviews RCV000032522 SCV000056185 pathologic Retinitis pigmentosa 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV000032522 SCV001161334 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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