ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.723C>T (p.Asp241=) (rs146653693)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000334152 SCV000457004 uncertain significance Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381733 SCV000457005 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275715 SCV000457006 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000423425 SCV000521673 likely benign not specified 2017-01-23 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 RCV000457962 SCV000563698 likely benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562470 SCV000664562 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing

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