ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2860T>C (rs268672)

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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 RCV000326806 SCV000413220 benign Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576609 SCV000677431 benign Charcot-Marie-Tooth disease, demyelinating, type 4F 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000860227 SCV001000207 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118076 SCV000152406 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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