ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=)

gnomAD frequency: 0.00003  dbSNP: rs780391343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488083 SCV000575250 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516590 SCV000615030 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318590 SCV000851662 likely benign Inborn genetic diseases 2017-04-20 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 RCV001470063 SCV001674153 likely benign Early infantile epileptic encephalopathy with suppression bursts 2021-03-14 criteria provided, single submitter clinical testing

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