ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=)

gnomAD frequency: 0.00598  dbSNP: rs111932993
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713747 SCV000844376 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312255 SCV000847337 likely benign Inborn genetic diseases 2016-07-25 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.
Invitae RCV000713747 SCV001001506 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000713747 SCV001884540 benign not provided 2019-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499295 SCV002812524 likely benign Developmental and epileptic encephalopathy, 18 2021-11-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002499295 SCV004180025 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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