ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.819+14C>T (rs188257265)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001971 SCV001159777 benign Basel-Vanagaite-Smirin-Yosef syndrome 2020-01-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172673 SCV001335737 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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