ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val)

gnomAD frequency: 0.00225  dbSNP: rs144738522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224282 SCV000281523 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224282 SCV001099945 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224282 SCV004137647 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing LAMA1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004547574 SCV004733905 likely benign LAMA1-related disorder 2023-06-08 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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