ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1155G>A (p.Glu385=)

gnomAD frequency: 0.00001  dbSNP: rs878855232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230140 SCV000291545 likely benign Charcot-Marie-Tooth disease type 2 2023-10-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772067 SCV000905096 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494669 SCV002798406 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 2021-08-11 criteria provided, single submitter clinical testing

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