ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)

gnomAD frequency: 0.00019  dbSNP: rs559839676
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000713508 SCV000524450 benign not provided 2021-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29619247)
Athena Diagnostics Inc RCV000713508 SCV000844129 likely benign not provided 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV001486073 SCV001690522 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808812 SCV002056659 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525371 SCV003688668 likely benign Inborn genetic diseases 2022-03-14 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.
CeGaT Center for Human Genetics Tuebingen RCV000713508 SCV004156410 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BS1

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