ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.899-6C>T

gnomAD frequency: 0.00135  dbSNP: rs200114980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000265820 SCV000332656 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000265820 SCV003271357 benign not provided 2023-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909913 SCV004725832 likely benign SLC27A5-related disorder 2022-06-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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