ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr)

gnomAD frequency: 0.00009  dbSNP: rs779995373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002570660 SCV003281318 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001543394 SCV001761952 likely pathogenic distinct bent bone dysplasia no assertion criteria provided research
OMIM RCV002292647 SCV002583568 pathogenic Bent bone dysplasia syndrome 2 2023-11-02 no assertion criteria provided literature only

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