ClinVar Miner

Submissions for variant NM_017841.2(SDHAF2):c.319C>T (p.Arg107Cys) (rs140191819)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467831 SCV000562732 likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561135 SCV000675035 likely benign Hereditary cancer-predisposing syndrome 2019-03-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732063 SCV000859951 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing

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