ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) (rs199474724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV001178806 SCV001343335 uncertain significance Cardiomyopathy 2019-07-31 criteria provided, single submitter clinical testing
GeneReviews RCV000034134 SCV000058065 pathologic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2013-01-17 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000190400 SCV000243942 pathogenic Emery-Dreifuss muscular dystrophy 3, autosomal recessive 2012-04-01 no assertion criteria provided literature only

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