ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)

gnomAD frequency: 0.03855  dbSNP: rs13420401
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253108 SCV000309978 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360382 SCV000432047 benign Neuronopathy, distal hereditary motor, type 7B 2018-01-12 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 RCV000259728 SCV000432048 benign Perry syndrome 2018-01-12 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 RCV000537100 SCV000644837 benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000253108 SCV001475065 benign not specified 2020-05-21 criteria provided, single submitter clinical testing
GeneDx RCV001618431 SCV001843033 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618431 SCV005243007 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000253108 SCV001923787 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000253108 SCV001975724 benign not specified no assertion criteria provided clinical testing

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