ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) (rs782023308)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156665 SCV000206386 uncertain significance not specified 2014-07-08 criteria provided, single submitter clinical testing The Lys515Gln variant in MYO7A has been reported in one Usher syndrome study whe re it was detected in 1/878 (0.1%) control chromosomes and was classified as a " probably neutral" variant (Le Quesne Stabej 2012). This variant was absent from other large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Lys515Gln variant is uncertain.
Counsyl RCV000664469 SCV000788431 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000979350 SCV001127291 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing

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