ClinVar Miner

Submissions for variant NM_022829.6(SLC13A3):c.1278C>T (p.Pro426=)

gnomAD frequency: 0.58688  dbSNP: rs1880898
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519407 SCV001728273 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807406 SCV002055439 benign Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519407 SCV005313969 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980579 SCV004798745 benign SLC13A3-related disorder 2019-10-30 no assertion criteria provided 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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