ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) (rs201321140)

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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 RCV000213297 SCV000272153 uncertain significance not specified 2015-02-03 criteria provided, single submitter clinical testing The p.Pro1615Leu variant in MYO7A has not been previously reported in individual s with hearing loss, but has been identified in 2/62452 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs 201321140). Computational prediction tools and conservation analyses suggest the variant may not impact the protein, though this information is not predictive e nough to rule out pathogenicity. In summary, the clinical significance of the p .Pro1615Leu variant is uncertain.
Counsyl RCV000667715 SCV000792209 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-06-09 criteria provided, single submitter clinical testing

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