ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) (rs75158917)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088274 SCV000285608 benign Brugada syndrome 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245353 SCV000318606 likely benign Cardiovascular phenotype 2016-02-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000710355 SCV000534042 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710355 SCV000840558 benign not provided 2017-10-05 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000427711 SCV001920029 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710355 SCV001928829 likely benign not provided no assertion criteria provided clinical testing

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