ClinVar Miner

Submissions for variant NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys)

gnomAD frequency: 0.00113  dbSNP: rs138979306
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 RCV000964830 SCV001112072 likely benign Immunodeficiency, common variable, 7 2023-12-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883517 SCV004699879 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CR2: BP4

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