ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.7138G>A (p.Gly2380Ser)

gnomAD frequency: 0.00077  dbSNP: rs150998056
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000955588 SCV001102301 benign not provided 2024-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000955588 SCV005308322 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003926029 SCV004744859 benign LAMA5-related disorder 2019-05-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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