ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.362-58TATT[8]

dbSNP: rs149491709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002215530 SCV002367327 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498251 SCV002809523 likely benign Metabolic myopathy due to lactate transporter defect; Exercise-induced hyperinsulinism; Ketoacidosis due to monocarboxylate transporter-1 deficiency 2022-01-21 criteria provided, single submitter clinical testing

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