ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.482-5T>C

gnomAD frequency: 0.00631  dbSNP: rs147042920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527829 SCV000655906 benign Developmental and epileptic encephalopathy, 34 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002263812 SCV002544630 benign not provided 2024-07-01 criteria provided, single submitter clinical testing SLC12A5: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002263812 SCV004564702 benign not provided 2023-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915639 SCV004728835 likely benign SLC12A5-related disorder 2019-03-25 criteria provided, single submitter 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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