ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met)

gnomAD frequency: 0.00030  dbSNP: rs200093098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919823 SCV001065177 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000919823 SCV004150759 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing LAMA5: BP4
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736131 SCV000864428 likely pathogenic Short stature 2001-11-18 no assertion criteria provided case-control
PreventionGenetics, part of Exact Sciences RCV004745576 SCV005351949 likely benign LAMA5-related disorder 2024-05-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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