ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4710G>A (p.Thr1570=)

gnomAD frequency: 0.00003  dbSNP: rs375889333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861535 SCV001001888 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000861535 SCV001146050 likely benign not provided 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332757 SCV002634156 likely benign Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genome-Nilou Lab RCV003457842 SCV004180036 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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