ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1770C>T (p.Ala590=) (rs17776775)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041257 SCV000064948 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041257 SCV000169726 benign not specified 2013-03-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041257 SCV000341664 benign not specified 2016-05-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281890 SCV000605532 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
Invitae RCV001512363 SCV001719766 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001538019 SCV001755002 benign Usher syndrome, type 1C 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001538020 SCV001755003 benign Deafness, autosomal recessive 18 2021-07-10 criteria provided, single submitter clinical testing

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