ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) (rs121908830)

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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 RCV000164900 SCV000215587 pathogenic Hereditary cancer-predisposing syndrome 2014-06-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
OMIM RCV000000128 SCV000020271 risk factor Pheochromocytoma, susceptibility to 2010-03-01 no assertion criteria provided literature only
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114833 SCV000148728 likely pathogenic - adrenal bilateral pheochromocy Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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