ClinVar Miner

Submissions for variant NM_004982.4(KCNJ8):c.111C>T (p.Ile37=)

gnomAD frequency: 0.00021  dbSNP: rs112604741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638796 SCV000760345 benign Brugada syndrome 2024-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001766366 SCV002008020 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440259 SCV002749627 benign Cardiovascular phenotype 2021-04-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001766366 SCV005214329 likely benign not provided criteria provided, single submitter not provided

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