ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2409G>A (p.Pro803=)

gnomAD frequency: 0.00006  dbSNP: rs180810470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865632 SCV001006627 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000865632 SCV001773961 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457864 SCV004179808 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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