ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10726G>A (p.Glu3576Lys)

gnomAD frequency: 0.00406  dbSNP: rs139502000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656107 SCV000598606 uncertain significance Polymicrogyria 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Labcorp Genetics (formerly Invitae), Labcorp RCV000949857 SCV001096129 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000949857 SCV004033893 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LAMA5: BP4, BS2

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