ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1543-8T>C (rs115061722)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210493 SCV000266795 benign Charcot-Marie-Tooth disease type 4 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094177 SCV000378188 likely benign Charcot-Marie-Tooth disease, type 4H 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000426397 SCV000515751 benign not specified 2015-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172948 SCV001336023 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000426397 SCV001477244 benign not specified 2020-03-11 criteria provided, single submitter clinical testing

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