ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.786-7A>G

gnomAD frequency: 0.00001  dbSNP: rs781887799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725786 SCV000339360 uncertain significance not provided 2016-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000275403 SCV000715511 likely benign not specified 2017-02-02 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001273739 SCV001617110 likely benign Glucose-6-phosphate transport defect 2023-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273739 SCV001457213 uncertain significance Glucose-6-phosphate transport defect 2020-04-16 no assertion criteria provided clinical testing

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