ClinVar Miner

Submissions for variant NM_007357.3(COG2):c.2166C>T (p.Leu722=)

gnomAD frequency: 0.00080  dbSNP: rs2296801
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000968832 SCV001116311 benign Congenital disorder of glycosylation, type IIq 2024-01-18 criteria provided, single submitter clinical testing

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