ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.618+12T>C

gnomAD frequency: 0.45572  dbSNP: rs3803679
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247833 SCV000309390 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000602079 SCV000399741 benign Hereditary spastic paraplegia 7 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000602079 SCV000745328 benign Hereditary spastic paraplegia 7 2017-03-27 criteria provided, single submitter clinical testing
Invitae RCV000602079 SCV001729820 benign Hereditary spastic paraplegia 7 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001711559 SCV001939105 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000602079 SCV002057604 benign Hereditary spastic paraplegia 7 2021-07-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602079 SCV000733555 benign Hereditary spastic paraplegia 7 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000247833 SCV001952032 benign not specified no assertion criteria provided clinical testing

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