ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)

dbSNP: rs782547500
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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 RCV000945290 SCV001091282 likely benign Glucose-6-phosphate transport defect 2023-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489278 SCV002801658 likely benign Phosphate transport defect; Glucose-6-phosphate transport defect; Congenital disorder of glycosylation, type IIw 2021-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000945290 SCV002078751 likely benign Glucose-6-phosphate transport defect 2020-02-03 no assertion criteria provided clinical testing

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