ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)

dbSNP: rs281875209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023913 SCV000045204 pathogenic Congenital defect of folate absorption 2011-05-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059709 SCV000091279 not provided not provided no assertion provided not provided

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