ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.366C>T (p.Ala122=)

dbSNP: rs74012178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440733 SCV000518512 benign not specified 2017-04-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000872376 SCV001014176 benign COG7 congenital disorder of glycosylation 2025-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872376 SCV001279820 likely benign COG7 congenital disorder of glycosylation 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV000872376 SCV002803562 benign COG7 congenital disorder of glycosylation 2021-07-11 criteria provided, single submitter clinical testing

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