ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2745G>A (p.Val915=)

gnomAD frequency: 0.00001  dbSNP: rs1554333214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770211 SCV000901641 likely benign Cardiomyopathy 2017-10-31 criteria provided, single submitter clinical testing
Invitae RCV002067216 SCV002346788 likely benign Dilated cardiomyopathy 1JJ 2021-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918259 SCV004730499 likely benign LAMA4-related condition 2019-03-13 criteria provided, single submitter 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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