ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2617G>A (p.Val873Met) (rs201533059)

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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 RCV000041286 SCV000064977 likely benign not specified 2012-03-22 criteria provided, single submitter clinical testing Val873Met in exon 26 of USH1C: This variant is has been identified in 1/3738 (0. 02%) of African American chromosomes in a broad population by the NHLBI Exome se quencing project (http://evs.gs.washington.edu/EVS/). It is not expected to have clinical significance due to a lack of conservation across species, including m ammals. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Counsyl RCV000665997 SCV000790227 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-03-23 criteria provided, single submitter clinical testing
Invitae RCV000943587 SCV001089539 likely benign not provided 2018-08-10 criteria provided, single submitter clinical testing

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