ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.19A>C (p.Asn7His)

gnomAD frequency: 0.00612  dbSNP: rs114156788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081412 SCV000113343 benign not specified 2017-02-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426818 SCV000510779 likely benign not provided 2016-10-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000081412 SCV000518820 benign not specified 2016-02-22 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.
Invitae RCV001080586 SCV001013674 benign SLC35A1-congenital disorder of glycosylation 2024-01-22 criteria provided, single submitter clinical testing

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