ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.1571G>A (p.Arg524His)

gnomAD frequency: 0.00031  dbSNP: rs201845068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000920921 SCV001066309 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000920921 SCV004140873 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LAMA3: BP4
PreventionGenetics, part of Exact Sciences RCV003902995 SCV004721438 likely benign LAMA3-related condition 2020-03-06 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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