ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) (rs138160928)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168099 SCV000218755 likely benign Charcot-Marie-Tooth disease type 4 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000857634 SCV000278977 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094112 SCV000378185 uncertain significance Charcot-Marie-Tooth disease, type 4H 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics Inc RCV000219132 SCV000613270 uncertain significance not specified 2017-01-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857634 SCV001148686 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174096 SCV001337217 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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