ClinVar Miner

Submissions for variant NM_006416.5(SLC35A1):c.303G>C (p.Gln101His) (rs1554166294)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000578208 SCV000680078 pathogenic Congenital disorder of glycosylation type 2F 2018-02-01 no assertion criteria provided literature only

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