ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser)

dbSNP: rs1572060087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005012310 SCV005641348 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-05-26 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787728 SCV000926731 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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