ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5071+18A>G

gnomAD frequency: 0.02430  dbSNP: rs73591259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245451 SCV000304160 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245451 SCV000525736 benign not specified 2016-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510000 SCV001716923 benign LAMA2-related muscular dystrophy 2025-02-02 criteria provided, single submitter clinical testing

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