ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)

gnomAD frequency: 0.00001  dbSNP: rs782326705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928345 SCV001073955 likely benign Glucose-6-phosphate transport defect 2023-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502833 SCV002807844 likely benign Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-02-03 criteria provided, single submitter clinical testing

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