ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)

dbSNP: rs1597834560
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986185 SCV001135096 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488075 SCV002797369 likely pathogenic Congenital defect of folate absorption 2022-04-21 criteria provided, single submitter clinical testing

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