ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) (rs80207011)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130407 SCV000185269 likely benign Hereditary cancer-predisposing syndrome 2017-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Counsyl RCV000410621 SCV000487821 likely benign Paragangliomas 5 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000612697 SCV000730679 likely benign not specified 2017-08-08 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 RCV000228248 SCV000288113 benign Mitochondrial complex II deficiency; Paragangliomas 5 2017-12-27 criteria provided, single submitter clinical testing

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