ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) (rs76838169)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037867 SCV000112276 benign not specified 2012-12-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000505516 SCV000382992 benign Deafness, autosomal recessive 1A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000505516 SCV000599764 benign Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711353 SCV000841711 benign not provided 2018-03-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000711353 SCV000883942 benign not provided 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV000711353 SCV001032166 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037867 SCV000061529 benign not specified 2008-06-23 no assertion criteria provided clinical testing
Natera, Inc. RCV000505516 SCV001453868 benign Deafness, autosomal recessive 1A 2020-04-17 no assertion criteria provided clinical testing

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