ClinVar Miner

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

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Total submissions: 6
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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 RCV000338980 SCV000382992 benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037867 SCV000061529 benign not specified 2008-06-23 no assertion criteria provided clinical testing

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