ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1569T>C (p.Ala523=) (rs150192376)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566664 SCV000674930 likely benign Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000445091 SCV000529318 likely benign not specified 2017-11-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000458596 SCV000563721 benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-03 criteria provided, single submitter clinical testing

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