ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.463del (p.Ser155fs) (rs193922649)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030113 SCV000052768 likely pathogenic Primary familial hypertrophic cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037418 SCV000061075 likely pathogenic Danon disease 2010-02-24 criteria provided, single submitter clinical testing

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