ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7881T>G (p.His2627Gln) (rs202247792)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000031900 SCV000790969 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-04-17 criteria provided, single submitter clinical testing
GeneReviews RCV000031900 SCV000054526 pathologic Merosin deficient congenital muscular dystrophy 2012-06-07 no assertion criteria provided curation Converted during submission to Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000031900 SCV000678247 likely pathogenic Merosin deficient congenital muscular dystrophy 2016-04-05 no assertion criteria provided clinical testing The observed variant c.7881T>G (p.H2627Q) is not reported in The 1000 Genomes or ExAC databases. However, it is reported by Geranmayeh et al., 2010. The in silico prediction of the variant is damaging by MutationTaster2, tolerated by SIFT.

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