ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1381-6C>G

dbSNP: rs371635492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936113 SCV001081876 likely benign Charcot-Marie-Tooth disease type 2 2023-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489250 SCV002795304 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 2022-04-11 criteria provided, single submitter clinical testing

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