ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)

dbSNP: rs606231310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986394 SCV001135390 pathogenic Exercise-induced hyperinsulinism 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000148037 SCV000195543 pathogenic Monocarboxylate transporter 1 deficiency, autosomal recessive 2014-11-13 no assertion criteria provided literature only

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