ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4960-132A>G

dbSNP: rs2114653633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357315 SCV001552753 uncertain significance Muscular dystrophy no assertion criteria provided clinical testing This variant was not observed in any population databases. In silico or computation prediction software suggest this variant may affect the branch point site, however, additional study is needed to determine if this variant affects mRNA splicing. In summary, the clinical significance of this variant cannot be determined with certainty at this time.

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