ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) (rs397517876)

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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 RCV000219294 SCV000272873 uncertain significance not specified 2016-03-01 criteria provided, single submitter clinical testing The p.Asn806Lys variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Computation al prediction tools and conservation analyses suggest that the p.Asn806Lys varia nt may impact the protein, though this information is not predictive enough to d etermine pathogenicity. In summary, the clinical significance of the p.Asn806Lys variant is uncertain.
Counsyl RCV000670409 SCV000795259 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-11-02 criteria provided, single submitter clinical testing

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