ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.-64-1215_12+348del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Medicine of IMOMA, Instituto de Medicina Oncológica y Molecular de Asturias RCV001375665 SCV001441573 likely pathogenic Autosomal recessive nonsyndromic hearing loss 24 2019-09-10 criteria provided, single submitter clinical testing PVS1_S, PM2, PM3_P

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