ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*936C>T (rs118071705)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127626 SCV000171205 benign not specified 2014-03-20 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.
Invitae RCV000203811 SCV000261029 benign Charcot-Marie-Tooth disease type 4 2020-12-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224934 SCV000281498 likely benign not provided 2015-02-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001094577 SCV000413246 likely benign Charcot-Marie-Tooth disease, demyelinating, type 4F 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282976 SCV001159135 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173958 SCV001337077 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000127626 SCV001476004 benign not specified 2020-04-15 criteria provided, single submitter clinical testing

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