ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9083+6T>A

dbSNP: rs1555547112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV000624126 SCV001478332 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2021-01-31 criteria provided, single submitter research Congenital, profound NSHL
CeGaT Center for Human Genetics Tuebingen RCV003992346 SCV004811529 likely pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing MYO15A: PM2, PM3, PP1:Moderate, PS3:Supporting
The Genetic Institute, Ha'emek Medical center, Ha'emek Medical Center RCV000624126 SCV000740319 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2017-12-06 no assertion criteria provided research Profound SNHL

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