ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.699G>T (p.Ala233=)

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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 RCV005192158 SCV005829735 likely benign RFT1-congenital disorder of glycosylation 2024-03-16 criteria provided, single submitter clinical testing

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