ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.-7A>C (rs751633537)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411889 SCV000489199 uncertain significance Paragangliomas 5 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000425129 SCV000525366 likely benign not specified 2017-03-01 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 RCV000649475 SCV000771303 likely benign Mitochondrial complex II deficiency; Paragangliomas 5 2017-08-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756629 SCV000884499 likely benign not provided 2017-09-20 criteria provided, single submitter clinical testing

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