ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.849+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1060499716
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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 RCV001291561 SCV001480090 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000449574 SCV000537822 likely pathogenic Usher syndrome type 1 no assertion criteria provided clinical testing

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