ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)

gnomAD frequency: 0.00006  dbSNP: rs752396911
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003444560 SCV001718070 benign Epilepsy with myoclonic atonic seizures 2024-08-27 criteria provided, single submitter clinical testing
New York Genome Center RCV003444560 SCV002506738 uncertain significance Epilepsy with myoclonic atonic seizures 2021-07-09 criteria provided, single submitter clinical testing
Mendelics RCV002248734 SCV002519377 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003444560 SCV003821455 uncertain significance Epilepsy with myoclonic atonic seizures 2021-04-02 criteria provided, single submitter clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000655989 SCV000588265 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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