ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.513C>T (p.His171=) (rs757426906)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649941 SCV000771777 likely benign Charcot-Marie-Tooth disease type 2P 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000841389 SCV000983352 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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