ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) (rs376391115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226282 SCV000288121 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565244 SCV000664643 likely benign Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Counsyl RCV000663186 SCV000786357 uncertain significance Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing

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