ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.297+47C>T

gnomAD frequency: 0.65748  dbSNP: rs7330016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582431 SCV001821579 benign COG6-congenital disorder of glycosylation 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582432 SCV001821580 benign Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001655919 SCV001862490 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655919 SCV005229699 benign not provided criteria provided, single submitter not provided

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