ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)

gnomAD frequency: 0.00024  dbSNP: rs145870898
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313656 SCV000848855 likely benign Inborn genetic diseases 2017-01-23 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 RCV000876455 SCV001019029 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001655581 SCV001869715 benign not provided 2020-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809782 SCV002056643 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001809782 SCV002800484 likely benign Developmental and epileptic encephalopathy, 5 2021-12-01 criteria provided, single submitter clinical testing

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