ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.1830+6C>T

gnomAD frequency: 0.01846  dbSNP: rs75171318
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232919 SCV000291320 benign Charcot-Marie-Tooth disease axonal type 2P 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232919 SCV000477227 benign Charcot-Marie-Tooth disease axonal type 2P 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172654 SCV001335717 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000232919 SCV001473579 benign Charcot-Marie-Tooth disease axonal type 2P 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001618355 SCV001842498 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618355 SCV005318924 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699264 SCV001923000 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699264 SCV001931443 benign not specified no assertion criteria provided clinical testing

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