ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=)

gnomAD frequency: 0.00267  dbSNP: rs114046098
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713753 SCV000844382 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317943 SCV000849946 benign Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000713753 SCV001002892 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000713753 SCV001788824 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713753 SCV004032946 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7, BS2
Genome-Nilou Lab RCV003457741 SCV004179092 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713753 SCV005259151 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000713753 SCV001931398 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000713753 SCV001971796 likely benign not provided no assertion criteria provided clinical testing

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