ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.64-16del

dbSNP: rs776377276
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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 RCV002107343 SCV002395736 benign RFT1-congenital disorder of glycosylation 2024-12-24 criteria provided, single submitter clinical testing

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