ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1776T>C (p.His592=) (rs1126538)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130494 SCV000185363 benign Hereditary cancer-predisposing syndrome 2015-02-16 criteria provided, single submitter clinical testing
Invitae RCV000205292 SCV000262108 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243217 SCV000309993 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264789 SCV000457046 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329216 SCV000457047 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383884 SCV000457048 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000243217 SCV000518962 benign not specified 2016-03-11 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.

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