ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)

gnomAD frequency: 0.00001  dbSNP: rs80338772
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000901 SCV000021051 pathogenic Congenital defect of folate absorption 2007-08-15 no assertion criteria provided literature only
GeneReviews RCV000000901 SCV000041575 not provided Congenital defect of folate absorption no assertion provided literature only
UniProtKB/Swiss-Prot RCV000059717 SCV000091287 not provided not provided no assertion provided not provided

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