ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.1746+2T>G

dbSNP: rs1555280464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000584831 SCV000784355 uncertain significance COG6-congenital disorder of glycosylation 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662023 SCV000784356 uncertain significance Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000584831 SCV000692570 pathogenic COG6-congenital disorder of glycosylation 2018-02-22 no assertion criteria provided literature only

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