ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)

gnomAD frequency: 0.00197  dbSNP: rs138762270
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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 Inc RCV000713748 SCV000844377 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312256 SCV000846311 benign Inborn genetic diseases 2017-06-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV000713748 SCV001001778 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713748 SCV001500812 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SZT2: BP4, BS2
Baylor Genetics RCV001335728 SCV001528956 uncertain significance Developmental and epileptic encephalopathy, 18 2018-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000713748 SCV001792800 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918152 SCV004733647 likely benign SZT2-related condition 2020-07-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000713748 SCV001929953 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000713748 SCV001976213 likely benign not provided no assertion criteria provided clinical testing

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