ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2124T>C (p.Ser708=) (rs369021714)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216768 SCV000271148 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing p.Ser708Ser in Exon 19 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (15 /16370) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.; dbSNP rs369021714).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725257 SCV000335377 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Counsyl RCV000665700 SCV000789863 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-02-23 criteria provided, single submitter clinical testing
Invitae RCV000725257 SCV001067796 benign not provided 2018-11-02 criteria provided, single submitter clinical testing

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