ClinVar Miner

Submissions for variant NM_022772.4(EPS8L2):c.1014del (p.Ser339fs)

dbSNP: rs1554952443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000499522 SCV005380245 pathogenic Hearing loss, autosomal recessive 106 2024-10-23 criteria provided, single submitter clinical testing
OMIM RCV000499522 SCV000590944 pathogenic Hearing loss, autosomal recessive 106 2017-08-22 no assertion criteria provided literature only

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