ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.446+32dup

dbSNP: rs11459279
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174143 SCV001337264 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001644932 SCV001858052 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703087 SCV001933456 benign Bilateral parasagittal parieto-occipital polymicrogyria 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702088 SCV001933457 benign Amyotrophic lateral sclerosis type 11 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702770 SCV001933458 benign Charcot-Marie-Tooth disease type 4J 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702881 SCV001933459 benign Yunis-Varon syndrome 2021-08-10 criteria provided, single submitter clinical testing

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