ClinVar Miner

Submissions for variant NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)

gnomAD frequency: 0.24916  dbSNP: rs8192696
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128142 SCV000171734 benign not specified 2013-08-29 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 RCV000128142 SCV000306906 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001273999 SCV001724403 benign Glucose-6-phosphate transport defect 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273999 SCV001750408 benign Glucose-6-phosphate transport defect 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533659 SCV001750409 benign Phosphate transport defect 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001824627 SCV005235111 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273999 SCV001457660 benign Glucose-6-phosphate transport defect 2020-09-16 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824627 SCV002074755 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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