ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1485G>A (p.Val495=)

dbSNP: rs1651703234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191754 SCV001359653 likely benign Cardiomyopathy 2019-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504215 SCV002810054 likely benign Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2 2022-04-12 criteria provided, single submitter clinical testing

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