ClinVar Miner

Submissions for variant NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) (rs76440173)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000399878 SCV000441786 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438416 SCV000511782 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000473030 SCV000562561 likely benign Spastic paraplegia 2017-06-15 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000438416 SCV000575377 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000438416 SCV000981135 likely benign not provided 2018-05-10 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.

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