ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=)

gnomAD frequency: 0.00096  dbSNP: rs144748889
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
Invitae RCV000650434 SCV000772279 benign Combined immunodeficiency due to LRBA deficiency 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432694 SCV004151153 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing LRBA: BP4, BP7

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