ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.134T>C (p.Phe45Ser)

dbSNP: rs2539443649
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004556932 SCV005045580 uncertain significance Autosomal recessive nonsyndromic hearing loss 24 2023-03-02 criteria provided, single submitter clinical testing ACMG Criteria: PM1_SUP, PM2_SUP, PP3 (ACMG Version 4)

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