ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2550+5G>T

dbSNP: rs41270349
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252157 SCV000312488 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001080134 SCV000563157 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311388 SCV000847157 benign Inborn genetic diseases 2016-04-23 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.
Athena Diagnostics Inc RCV000252157 SCV001476243 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001080134 SCV001845425 benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445817 SCV004174047 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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