ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln)

gnomAD frequency: 0.00002  dbSNP: rs866448113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208452 SCV000263996 uncertain significance Focal segmental glomerulosclerosis 2015-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485361 SCV002798243 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-01-14 criteria provided, single submitter clinical testing

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