ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5025-17A>G

gnomAD frequency: 0.00719  dbSNP: rs149950330
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514305 SCV000610526 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514305 SCV002469460 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446114 SCV004174053 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514305 SCV005259073 likely benign not provided criteria provided, single submitter not provided

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