ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.1765G>A (p.Val589Ile)

gnomAD frequency: 0.01764  dbSNP: rs34109129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000955891 SCV001102626 benign Congenital disorder of glycosylation, type IIq 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001638021 SCV001852031 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000955891 SCV002807299 likely benign Congenital disorder of glycosylation, type IIq 2021-09-27 criteria provided, single submitter clinical testing

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