ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1489-16C>G

gnomAD frequency: 0.00076  dbSNP: rs201379016
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172630 SCV001335693 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001528967 SCV001890081 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068061 SCV002328106 benign Charcot-Marie-Tooth disease type 2 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497605 SCV002807662 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 2021-09-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001700712 SCV002819633 benign not specified 2022-12-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528967 SCV001741632 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700712 SCV001924477 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528967 SCV001967599 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001528967 SCV002036548 likely benign not provided no assertion criteria provided clinical testing

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