ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.447-16delinsTT

dbSNP: rs1776038653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173524 SCV001336613 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497606 SCV002808623 likely benign Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 2022-05-09 criteria provided, single submitter clinical testing

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