ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)

gnomAD frequency: 0.00044  dbSNP: rs114371269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793067 SCV000932403 likely benign Developmental and epileptic encephalopathy, 34 2024-01-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000793067 SCV001523078 uncertain significance Developmental and epileptic encephalopathy, 34 2019-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
New York Genome Center RCV000793067 SCV001815789 uncertain significance Developmental and epileptic encephalopathy, 34 2020-07-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480822 SCV004225497 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing BP4, PP2

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