ClinVar Miner

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

gnomAD frequency: 0.00660  dbSNP: rs34010781
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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 2024-02-01 criteria provided, single submitter clinical testing COG2: BP4, BP7, BS1, BS2

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