ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)

gnomAD frequency: 0.00038  dbSNP: rs3733616
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474448 SCV000557234 benign Long QT syndrome 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001721514 SCV000728499 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25351510)
Ambry Genetics RCV000620093 SCV000737422 benign Cardiovascular phenotype 2017-07-10 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.
Illumina Laboratory Services, Illumina RCV001149937 SCV001310938 likely benign Cardiac arrhythmia, ankyrin-B-related 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab RCV001149937 SCV002525063 benign Cardiac arrhythmia, ankyrin-B-related 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721514 SCV004148748 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing ANK2: BP4

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