ClinVar Miner

Submissions for variant NM_005797.4(MPZL2):c.[220C>T];[463del]

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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 Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine RCV000984796 SCV000930664 pathogenic Hearing loss, autosomal recessive 111 2019-08-08 no assertion criteria provided research Individual with NSHL carried compound heterozygous variants in MPZL2. AR NSHL had a characteristic of moderate and progressive hearing loss. Hearing impairment in the individual was a sporadic case in his family.

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