ClinVar Miner

Submissions for variant NM_145059.3(FCSK):c.667T>C (p.Ser223Pro)

gnomAD frequency: 0.00007  dbSNP: rs769009456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000757948 SCV000930552 uncertain significance Congenital disorder of glycosylation with defective fucosylation 2 2019-04-03 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30503518 (individual 1).
Baylor Genetics RCV000757948 SCV003836216 uncertain significance Congenital disorder of glycosylation with defective fucosylation 2 2022-03-21 criteria provided, single submitter clinical testing
OMIM RCV000757948 SCV000886469 pathogenic Congenital disorder of glycosylation with defective fucosylation 2 2019-02-22 no assertion criteria provided literature only

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