ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.944-1G>T (rs1588216753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000985080 SCV001525140 pathogenic Charcot-Marie-Tooth disease, type 4D 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001509350 SCV001716001 likely pathogenic not provided 2019-04-14 criteria provided, single submitter clinical testing PVS1_strong, PM2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000985080 SCV001133040 likely pathogenic Charcot-Marie-Tooth disease, type 4D 2019-09-26 no assertion criteria provided clinical testing

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