ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.4660C>T (p.Arg1554Cys)

gnomAD frequency: 0.00006  dbSNP: rs375971925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774808 SCV002004087 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001774808 SCV002245488 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing

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