ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.130G>A (p.Val44Ile) (rs146004831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086624 SCV000252838 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712332 SCV000842806 benign not provided 2017-09-19 criteria provided, single submitter clinical testing

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