ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.879G>A (p.Pro293=) (rs145264166)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435691 SCV000510568 likely benign not provided 2017-01-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000434697 SCV000518783 benign not specified 2016-07-28 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 RCV000344731 SCV000430106 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206231 SCV000259937 benign Spastic paraplegia 4, autosomal dominant 2017-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000434697 SCV000540414 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not present in FAST (due to DM? classification). ExAC: 1.4% (898/66366) European. Silent and not in splice consensus.

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