ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) (rs139344911)

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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 RCV000395586 SCV000477226 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527280 SCV000652025 likely benign Charcot-Marie-Tooth disease type 2P 2017-05-26 criteria provided, single submitter clinical testing

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