ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.811A>G (p.Ile271Val)

gnomAD frequency: 0.00002  dbSNP: rs551058375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103843 SCV002398560 likely benign COG4-congenital disorder of glycosylation 2024-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486874 SCV002803614 likely benign COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2021-07-24 criteria provided, single submitter clinical testing

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