ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.1483-7C>T (rs2017698)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204774 SCV000262443 benign Charcot-Marie-Tooth disease, type 2 2020-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625156 SCV000743931 benign Charcot-Marie-Tooth disease type 2B2 2016-04-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001534 SCV001158852 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-08-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173676 SCV001336778 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001668371 SCV001888665 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001699237 SCV001919244 benign not specified no assertion criteria provided clinical testing

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