ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) (rs121908515)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000440604 SCV000844073 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440604 SCV000510640 benign not provided 2017-02-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000197924 SCV000734195 likely benign Spastic paraplegia 4, autosomal dominant no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000368675 SCV000340650 benign not specified 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000368675 SCV000514731 benign not specified 2016-08-31 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.
GeneReviews RCV000197924 SCV000987269 pathogenic Spastic paraplegia 4, autosomal dominant 2019-06-11 no assertion criteria provided literature only
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000197924 SCV000743203 likely benign Spastic paraplegia 4, autosomal dominant 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372361 SCV000430098 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000197924 SCV000253525 likely benign Spastic paraplegia 4, autosomal dominant 2017-02-06 criteria provided, single submitter clinical testing
OMIM RCV000006025 SCV000026207 risk factor Spastic paraplegia 4, modifier of 2006-07-11 no assertion criteria provided literature only

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