ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1659C>T (p.Asp553=)

dbSNP: rs748768783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773609 SCV000907303 likely benign Cardiomyopathy 2018-07-29 criteria provided, single submitter clinical testing
Invitae RCV001479921 SCV001684228 likely benign Charcot-Marie-Tooth disease type 2 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493413 SCV002800416 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 2021-11-13 criteria provided, single submitter clinical testing

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