ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1740_1747del (p.Val581fs)

dbSNP: rs2135345560
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Total submissions: 3
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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 RCV001682647 SCV001905536 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
The Shared Resource Centre "Genome", Research Centre for Medical Genetics RCV002449398 SCV002754452 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2022-11-10 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815587 SCV005072366 pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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