ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2445A>G (p.Gly815=)

gnomAD frequency: 0.00024  dbSNP: rs141282665
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552908 SCV000652485 benign Immunodeficiency, common variable, 7 2024-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715289 SCV005284832 benign not provided criteria provided, single submitter not provided

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