ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu)

gnomAD frequency: 0.00002  dbSNP: rs753515426
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423756 SCV000524650 benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV000460634 SCV000562980 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808813 SCV002056701 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356564 SCV002657024 benign Inborn genetic diseases 2019-06-21 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.

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