ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.410-2A>C (rs121908826)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000114829 SCV001135916 pathogenic Pheochromocytoma 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000000127 SCV000020270 risk factor Pheochromocytoma, susceptibility to 2010-03-01 no assertion criteria provided literature only
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114829 SCV000148724 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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