ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.362-21A>C

gnomAD frequency: 0.26702  dbSNP: rs201021807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807614 SCV002055699 benign Metabolic myopathy due to lactate transporter defect 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807615 SCV002055701 benign Exercise-induced hyperinsulinism 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807616 SCV002055702 benign Ketoacidosis due to monocarboxylate transporter-1 deficiency 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552030 SCV004799004 benign SLC16A1-related disorder 2021-06-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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