ClinVar Miner

Submissions for variant NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV002467365 SCV002762660 likely pathogenic Hearing loss, autosomal recessive 111 2022-12-13 criteria provided, single submitter clinical testing

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