ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.245-1G>T (rs121908821)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114824 SCV000148719 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000000129 SCV000020272 risk factor Pheochromocytoma, susceptibility to 2010-03-01 no assertion criteria provided literature only

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