ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs)

dbSNP: rs1278053918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625599 SCV000746098 pathogenic Retinitis pigmentosa 1 2017-09-18 no assertion criteria provided clinical testing

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