ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) (rs369439346)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863916 SCV001004646 likely benign Charcot-Marie-Tooth disease type 2P 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174254 SCV001337384 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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