ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.235C>T (p.Leu79=) (rs144717157)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206696 SCV000261901 benign Charcot-Marie-Tooth Neuropathy X 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334402 SCV000482712 likely benign X-linked hereditary motor and sensory neuropathy 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000435876 SCV000513145 benign not specified 2016-12-22 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.
Ambry Genetics RCV000720988 SCV000851872 likely benign History of neurodevelopmental disorder 2014-10-21 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000435876 SCV000929625 uncertain significance not specified no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790303 SCV000929710 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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