ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) (rs397516835)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130852 SCV000185750 pathogenic Hereditary cancer-predisposing syndrome 2015-12-05 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Well-characterized mutation at same position;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Deficient protein function in appropriate functional assay(s);Other strong data supporting pathogenic classification;Other data supporting pathogenic classification
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505338 SCV000599519 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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