ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.494+74A>G

gnomAD frequency: 0.59605  dbSNP: rs6588028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001537970 SCV001754917 benign ALG6-congenital disorder of glycosylation 1C 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001685455 SCV001897988 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685455 SCV005287274 benign not provided criteria provided, single submitter not provided

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