ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) (rs57318642)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000057324 SCV000337575 pathogenic not provided 2015-11-16 criteria provided, single submitter clinical testing
OMIM RCV000015576 SCV000035841 pathogenic Mandibuloacral dysplasia with type A lipodystrophy 2003-01-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057324 SCV000088437 not provided not provided no assertion provided not provided
GeneReviews RCV000192011 SCV000196614 pathogenic Hutchinson-Gilford syndrome 2015-01-08 no assertion criteria provided literature only
GeneReviews RCV000192240 SCV000239888 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only

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