ClinVar Miner

Submissions for variant NM_153603.4(COG7):c.2T>C (p.Met1Thr) (rs1555497604)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000662353 SCV000778845 likely pathogenic COG7 congenital disorder of glycosylation 2018-06-29 criteria provided, single submitter clinical testing Null variant (start codon) affecting gene COG7, which is a known mechanism of disease (gene COG7 is autosomal recessive). Allele not found in Broad gnomAD exomes despite good coverage=63 (greater than 20).

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