ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)

gnomAD frequency: 0.00001  dbSNP: rs782292086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319846 SCV001510607 likely benign Glucose-6-phosphate transport defect 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486269 SCV002791039 uncertain significance Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2022-04-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001319846 SCV002082074 uncertain significance Glucose-6-phosphate transport defect 2020-01-24 no assertion criteria provided clinical testing

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