ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.447-3dup (rs11377100)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV000857162 SCV001336617 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001513753 SCV001721426 benign Charcot-Marie-Tooth disease type 4 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001675966 SCV001892763 benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702735 SCV001933460 benign Polymicrogyria, bilateral temporooccipital 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702852 SCV001933461 benign Amyotrophic lateral sclerosis type 11 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001702851 SCV001933462 benign Charcot-Marie-Tooth disease, type 4J 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001703241 SCV001933464 benign Yunis-Varon syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857162 SCV000999743 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529819 SCV001743950 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529819 SCV001808150 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001529819 SCV001916969 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529819 SCV001932587 benign not specified no assertion criteria provided clinical testing

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