ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)

gnomAD frequency: 0.00053  dbSNP: rs148971334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728251 SCV000855799 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080222 SCV001070282 likely benign Glucose-6-phosphate transport defect 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000728251 SCV001887211 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect

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