ClinVar Miner

Submissions for variant NM_018714.3(COG1):c.1282-48T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Nilou-Genome Lab RCV001582429 SCV001821559 benign COG1 congenital disorder of glycosylation 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001655918 SCV001869883 benign not provided 2018-07-27 criteria provided, single submitter clinical testing

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