ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.507T>G (p.Ser169=)

gnomAD frequency: 0.27295  dbSNP: rs11554166
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000251902 SCV000313284 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325881 SCV000474966 benign Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000380453 SCV000474967 benign Charcot-Marie-Tooth disease recessive intermediate A 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000576842 SCV000677309 benign Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000860132 SCV001000063 benign Charcot-Marie-Tooth disease type 4A 2024-02-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173552 SCV001336642 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001539728 SCV001757532 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000251902 SCV000929646 uncertain significance not specified no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV000251902 SCV001923778 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251902 SCV001963169 benign not specified no assertion criteria provided clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447131 SCV004174650 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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