ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) (rs1271031981)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679872 SCV000807250 pathogenic Danon disease 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory de novo in a 4-year-old female with profound microcephaly, growth delay, seizure, severe hypertrophic cardiomyopathy, Wolff-ParkinsonWhite syndrome, mild optic nerve pallor, cortical visual impairment, encephalomalacia

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