ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.356-38G>A

gnomAD frequency: 0.83087  dbSNP: rs2022475
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829953 SCV000971685 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001809855 SCV002057172 benign Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829953 SCV005276253 benign not provided criteria provided, single submitter not provided

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