ClinVar Miner

Submissions for variant NM_004990.4(MARS1):c.1754-4C>A (rs377361080)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544897 SCV000655627 likely benign Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000602509 SCV000722947 likely benign not specified 2017-10-02 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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