ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2377-19T>C

gnomAD frequency: 0.05800  dbSNP: rs72944974
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173532 SCV001336622 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001514686 SCV001722590 benign Charcot-Marie-Tooth disease type 4 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001683746 SCV001899955 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580048 SCV001809476 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001580048 SCV001917269 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001580048 SCV001931775 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580048 SCV001972087 benign not specified no assertion criteria provided clinical testing

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