ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)

gnomAD frequency: 0.00001  dbSNP: rs1569237670
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073361 SCV001238902 likely pathogenic Retinal dystrophy 2018-12-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001251562 SCV001427270 likely pathogenic Retinitis pigmentosa 3 no assertion criteria provided clinical testing

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