ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) (rs28928902)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000057293 SCV000703324 uncertain significance not provided 2016-11-23 criteria provided, single submitter clinical testing
OMIM RCV000015597 SCV000035862 pathogenic Mandibuloacral dysplasia with type A lipodystrophy, atypical 2008-04-15 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057293 SCV000088406 not provided not provided no assertion provided not provided
GeneReviews RCV000192239 SCV000239887 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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