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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955891 SCV001102626 benign Congenital disorder of glycosylation, type IIq 2025-01-23 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
Breakthrough Genomics, Breakthrough Genomics RCV001638021 SCV005284224 benign not provided criteria provided, single submitter not provided

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