ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)

gnomAD frequency: 0.00002  dbSNP: rs376389170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003657156 SCV001649098 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842036 SCV001734573 likely benign Cardiac arrhythmia 2020-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405048 SCV002712792 likely benign Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002495629 SCV002800023 likely benign Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-10-01 criteria provided, single submitter clinical testing

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