ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1324+10C>T (rs202070075)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128201 SCV000171793 benign not specified 2014-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV001085222 SCV000399750 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128201 SCV000703279 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713480 SCV000844093 benign not provided 2018-02-15 criteria provided, single submitter clinical testing
Invitae RCV001085222 SCV001000873 likely benign Hereditary spastic paraplegia 7 2019-12-31 criteria provided, single submitter clinical testing

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