ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) (rs748286191)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517411 SCV000613150 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000641111 SCV000762733 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2020-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286436 SCV001473004 likely benign none provided 2020-08-26 criteria provided, single submitter clinical testing

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