ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.438T>C (p.Asp146=) (rs201328474)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568885 SCV000664758 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000882501 SCV001025742 likely benign Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2020-10-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284063 SCV001469646 benign not specified 2020-01-08 criteria provided, single submitter clinical testing

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