ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.20C>T (p.Ser7Leu)

gnomAD frequency: 0.00006  dbSNP: rs200144944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981762 SCV001129762 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001126281 SCV001285451 uncertain significance COG1 congenital disorder of glycosylation 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001126281 SCV001620629 likely benign COG1 congenital disorder of glycosylation 2018-11-06 criteria provided, single submitter clinical testing

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