ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.78C>T (p.Pro26=)

gnomAD frequency: 0.00001  dbSNP: rs1326784999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193876 SCV001363034 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001446927 SCV001649981 likely benign Long QT syndrome 10 2020-09-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418651 SCV002676903 likely benign Cardiovascular phenotype 2020-06-29 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.

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