ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) (rs570248730)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000399050 SCV000477203 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000649924 SCV000771760 likely benign Charcot-Marie-Tooth disease type 2P 2017-09-26 criteria provided, single submitter clinical testing

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