ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)

gnomAD frequency: 0.00409  dbSNP: rs116216229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884969 SCV001028381 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501414 SCV002807200 likely benign Metabolic myopathy due to lactate transporter defect; Exercise-induced hyperinsulinism; Ketoacidosis due to monocarboxylate transporter-1 deficiency 2021-09-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000884969 SCV004563830 likely benign not provided 2023-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550027 SCV004721933 benign SLC16A1-related disorder 2019-12-10 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).
Breakthrough Genomics, Breakthrough Genomics RCV000884969 SCV005280402 benign not provided criteria provided, single submitter not provided

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