ClinVar Miner

Submissions for variant NM_006280.3(SSR4):c.417+1G>A (rs1057518735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000412518 SCV000807251 pathogenic Congenital disorder of glycosylation type 1y 2017-09-01 criteria provided, single submitter clinical testing This splice variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in an 11-year-old male with intellectual disability, microcephaly, seizures, hip dysplasia, strabismus, scoliosis, and osteopenia
OMIM RCV000412518 SCV000490217 pathogenic Congenital disorder of glycosylation type 1y 2016-11-28 no assertion criteria provided literature only

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