ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1911C>T (p.Val637=) (rs11557098)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000210496 SCV000266804 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298002 SCV000457058 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343504 SCV000457059 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402055 SCV000457060 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000426571 SCV000518788 benign not specified 2016-11-17 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.
Ambry Genetics RCV000564874 SCV000664477 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing

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