ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.38-46G>C

dbSNP: rs142537375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594932 SCV000700423 benign not specified 2017-02-10 criteria provided, single submitter clinical testing
GeneDx RCV001557847 SCV001779687 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233760 SCV003931625 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001557847 SCV005218112 likely benign not provided criteria provided, single submitter not provided

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