ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)

gnomAD frequency: 0.00048  dbSNP: rs536012651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908938 SCV001053722 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100248 SCV001256761 likely benign Exercise-induced hyperinsulinism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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