ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.381+15A>G

gnomAD frequency: 0.00003  dbSNP: rs1057520372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430257 SCV000514689 likely benign not specified 2016-03-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000667186 SCV000791602 likely benign Glucose-6-phosphate transport defect 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667186 SCV003467509 likely benign Glucose-6-phosphate transport defect 2024-12-15 criteria provided, single submitter clinical testing

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