ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.626+14C>T

gnomAD frequency: 0.01293  dbSNP: rs56394886
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128139 SCV000171731 benign not specified 2013-09-25 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.
PreventionGenetics, part of Exact Sciences RCV000128139 SCV000306911 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000128139 SCV000700823 benign not specified 2018-07-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521715 SCV001731108 benign Glucose-6-phosphate transport defect 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521715 SCV001750498 benign Glucose-6-phosphate transport defect 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533714 SCV001750499 benign Phosphate transport defect 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708054 SCV005235123 benign not provided criteria provided, single submitter not provided

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