ClinVar Miner

Submissions for variant NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) (rs773309037)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000348197 SCV000342118 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764517 SCV000895599 uncertain significance Elevated serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2018-10-31 criteria provided, single submitter clinical testing

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