ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.195+4_195+5del

dbSNP: rs397516719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037341 SCV000060998 uncertain significance not specified 2012-06-11 criteria provided, single submitter clinical testing The 195+4_195+5delCA variant in LAMA4 has not been reported in the literature no r previously identified by our laboratory. This variant is located in the 5' spl ice region, but computational tools do not suggest an obvious impact to splicing . However, this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of th is variant.

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