ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) (rs6960)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492773 SCV000581182 benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000270762 SCV000457049 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325852 SCV000457050 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389777 SCV000457051 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000210491 SCV000266798 benign Mitochondrial complex II deficiency; Paragangliomas 5 2015-11-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243534 SCV000309996 benign not specified criteria provided, single submitter clinical testing

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