ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu) (rs747675437)

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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 RCV000826071 SCV000967565 uncertain significance not specified 2018-11-20 criteria provided, single submitter clinical testing The p.Pro568Leu variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 0.004% (1/22996 ) of African chromosomes and 0.003% (3/119860) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Pro568Leu variant is uncerta in. ACMG/AMP Criteria applied: PM2.
Invitae RCV000929671 SCV001075306 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing

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