ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.4066G>A (p.Ala1356Thr)

gnomAD frequency: 0.00021  dbSNP: rs141657203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002510079 SCV002818839 uncertain significance not provided 2023-01-09 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 RCV002510079 SCV003269958 benign not provided 2024-04-22 criteria provided, single submitter clinical testing

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