ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) (rs587777714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263366 SCV001441408 likely pathogenic Tremor 2020-03-17 criteria provided, single submitter clinical testing
OMIM RCV000144072 SCV000189144 pathogenic Charcot-Marie-Tooth disease, type 4J 2011-07-01 no assertion criteria provided literature only

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