ClinVar Miner

Submissions for variant NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser)

dbSNP: rs1567818058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332794 SCV001525208 uncertain significance Congenital defect of folate absorption 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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