ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)

dbSNP: rs1305342570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073337 SCV001238877 likely pathogenic Retinal dystrophy 2018-12-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001251578 SCV001427275 likely pathogenic Retinitis pigmentosa 3 no assertion criteria provided clinical testing

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