ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) (rs200968756)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000267307 SCV000410391 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324534 SCV000410392 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550926 SCV000640237 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2017-07-31 criteria provided, single submitter clinical testing

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