ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.471-1G>A (rs548172627)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673992 SCV000799260 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-04-06 criteria provided, single submitter clinical testing

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