ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1384C>T (p.Leu462=)

gnomAD frequency: 0.00001  dbSNP: rs1701022192
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396528 SCV001598259 likely benign RFT1-congenital disorder of glycosylation 2022-07-12 criteria provided, single submitter clinical testing

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