ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) (rs782063761)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670176 SCV000795003 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-10-24 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504967 SCV000599114 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV000681537 SCV000807729 pathogenic Deafness, autosomal recessive 2 2018-07-05 no assertion criteria provided research

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