ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.8548-2A>G

dbSNP: rs369224209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673268 SCV000798451 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-03-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000673268 SCV001520659 likely pathogenic Merosin deficient congenital muscular dystrophy 2020-09-10 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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