ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)

gnomAD frequency: 0.00001  dbSNP: rs1043721709
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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 RCV001440458 SCV001643368 likely benign Glucose-6-phosphate transport defect 2023-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495615 SCV002796154 likely benign Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-11-30 criteria provided, single submitter clinical testing

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