ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.199A>G (p.Met67Val)

gnomAD frequency: 0.00829  dbSNP: rs2233319
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001000437 SCV000472140 benign Charcot-Marie-Tooth disease type 4D 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000474896 SCV000562106 benign Charcot-Marie-Tooth disease type 4 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000437 SCV001157251 benign Charcot-Marie-Tooth disease type 4D 2019-11-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173723 SCV001336837 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706601 SCV001827330 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662341 SCV001880318 benign not specified 2020-09-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001706601 SCV005220012 likely benign not provided criteria provided, single submitter not provided

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