ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)

dbSNP: rs1600356790
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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 RCV001029844 SCV001192630 likely pathogenic Retinitis pigmentosa 11 2019-09-12 no assertion criteria provided clinical testing

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