ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) (rs56380300)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230726 SCV000291322 benign Charcot-Marie-Tooth disease type 2P 2020-11-28 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000238735 SCV000297370 benign not specified 2015-07-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230726 SCV000477217 benign Charcot-Marie-Tooth disease type 2P 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423531 SCV000511271 likely benign not provided 2017-01-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000423531 SCV000513514 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000423531 SCV001155726 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174258 SCV001337388 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000230726 SCV001473479 likely benign Charcot-Marie-Tooth disease type 2P 2020-03-23 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000230726 SCV000607058 not provided Charcot-Marie-Tooth disease type 2P no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Clinical Genetics,Academic Medical Center RCV000423531 SCV001922562 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000423531 SCV001931162 likely benign not provided no assertion criteria provided clinical testing

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