ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) (rs104894825)

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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 RCV000344288 SCV000342948 benign not specified 2016-07-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000011195 SCV000482715 likely benign Charcot-Marie-Tooth Neuropathy X Type 1 2017-04-28 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001711068 SCV000520914 likely benign not provided 2020-07-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23871722, 22771394, 15852376, 21291455, 27066513, 12951564, 27228968, 9361298, 30340945)
Invitae RCV000467010 SCV000556953 benign Charcot-Marie-Tooth Neuropathy X 2020-12-04 criteria provided, single submitter clinical testing
Mendelics RCV000011195 SCV001141917 likely benign Charcot-Marie-Tooth Neuropathy X Type 1 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011195 SCV000031422 pathogenic Charcot-Marie-Tooth Neuropathy X Type 1 2005-05-01 no assertion criteria provided literature only
GeneReviews RCV000011195 SCV000040510 pathologic Charcot-Marie-Tooth Neuropathy X Type 1 2010-04-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV001271691 SCV001453016 benign Charcot-Marie-Tooth disease 2020-06-28 no assertion criteria provided clinical testing

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