ClinVar Miner

Submissions for variant NM_001042702.5(PJVK):c.880C>G (p.His294Asp)

dbSNP: rs2154126353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, Hospital Ramon y Cajal-IRYCIS RCV001799582 SCV002043794 pathogenic Autosomal recessive nonsyndromic hearing loss 59 2021-12-23 criteria provided, single submitter research

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