ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.3318A>G (p.Pro1106=)

gnomAD frequency: 0.00022  dbSNP: rs145978926
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899913 SCV001044204 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950543 SCV004765081 likely benign LAMA5-related disorder 2019-04-02 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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