ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.362-58TATT[11]

dbSNP: rs149491709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350512 SCV000347279 likely benign Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001651327 SCV001865821 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001651327 SCV002408371 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549632 SCV004790849 benign SLC16A1-related disorder 2021-06-18 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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