ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.881G>A (p.Arg294His) (rs115661328)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128198 SCV000171790 benign not specified 2013-05-23 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.
Athena Diagnostics Inc RCV000713488 SCV000844106 benign not provided 2017-11-21 criteria provided, single submitter clinical testing
Invitae RCV001001627 SCV001000831 benign Hereditary spastic paraplegia 7 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001627 SCV001159105 benign Hereditary spastic paraplegia 7 2018-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001001627 SCV001274792 benign Hereditary spastic paraplegia 7 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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