ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) (rs192317605)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501465 SCV000595514 likely benign not specified 2015-10-19 criteria provided, single submitter clinical testing
Invitae RCV000535129 SCV000658646 benign Laminin alpha 2-related dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000665212 SCV000789289 uncertain significance Merosin deficient congenital muscular dystrophy 2017-01-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153747 SCV001315050 uncertain significance Congenital muscular dystrophy due to partial LAMA2 deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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