ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr)

gnomAD frequency: 0.00067  dbSNP: rs151327713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247089 SCV000319528 benign Cardiovascular phenotype 2017-10-10 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000464539 SCV000562245 benign Brugada syndrome 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001704136 SCV000568239 benign not provided 2019-04-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25527503, 21383000, 22840528, 29016797, 30847666)
Blueprint Genetics RCV000157129 SCV000206852 likely benign Cardiac arrest 2014-12-05 no assertion criteria provided clinical testing

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