ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.133-2A>C

dbSNP: rs782064437
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671042 SCV000795982 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-11-27 criteria provided, single submitter clinical testing

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