ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1572C>T (p.Cys524=)

gnomAD frequency: 0.00004  dbSNP: rs111883392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253315 SCV000308796 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000874920 SCV001017160 likely benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243174 SCV005890329 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing LAMB2: BP4, BP7

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