ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2968A>G (rs268673)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000265764 SCV000413216 benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576869 SCV000677432 benign Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000860226 SCV001000206 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118077 SCV000152407 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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