ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys)

gnomAD frequency: 0.00033  dbSNP: rs138275607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705045 SCV000243080 benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Invitae RCV000458281 SCV000553139 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808484 SCV002056648 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433857 SCV002749003 benign Inborn genetic diseases 2019-11-26 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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