ClinVar Miner

Submissions for variant NM_017935.5(BANK1):c.120G>C (p.Trp40Cys)

gnomAD frequency: 0.01146  dbSNP: rs35978636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003437424 SCV004153020 benign not provided 2022-12-01 criteria provided, single submitter clinical testing BANK1: BS1, BS2
Carola Vinuesa Lab, John Curtin School of Medical Research RCV000758191 SCV000886656 benign Systemic lupus erythematosus no assertion criteria provided research

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