ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-10C>G (rs397516306)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036138 SCV000059790 likely benign not specified 2010-08-13 criteria provided, single submitter clinical testing 4153-10C>G in exon 32 of MYO7A: This variant is less likely to have clinical sig nificance because it is not in the highly conserved portion of the splicing cons ensus sequence and there are already two pathogenic MYO7A variants found in this individual.
Counsyl RCV000667318 SCV000791749 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-05-23 criteria provided, single submitter clinical testing

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