ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1588G>T (p.Ala530Ser)

gnomAD frequency: 0.00293  dbSNP: rs74141465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886761 SCV001030288 benign Arrhythmogenic right ventricular dysplasia 13 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001615077 SCV001834188 benign not provided 2020-05-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700490 SCV001919700 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001700490 SCV001963509 benign not specified no assertion criteria provided clinical testing

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