ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.708G>A (p.Thr236=)

gnomAD frequency: 0.00660  dbSNP: rs34010781
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954227 SCV001100846 benign Congenital disorder of glycosylation, type IIq 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001766797 SCV002008000 likely benign not provided 2019-09-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001766797 SCV004126086 benign not provided 2024-08-01 criteria provided, single submitter clinical testing COG2: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001766797 SCV005264338 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758104 SCV005352131 benign COG2-related disorder 2024-08-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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