ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) (rs187964306)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573807 SCV000664504 benign Hereditary cancer-predisposing syndrome 2015-02-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224380 SCV000281241 likely benign not provided 2015-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000411625 SCV000487991 benign Paragangliomas 5 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000216190 SCV000279724 likely benign not specified 2017-10-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000374489 SCV000456968 likely benign Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282383 SCV000456969 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349064 SCV000456970 likely benign Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000210499 SCV000266801 benign Mitochondrial complex II deficiency; Paragangliomas 5 2018-01-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000216190 SCV000309995 benign not specified criteria provided, single submitter clinical testing

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