ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) (rs121908819)

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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 RCV000571713 SCV000664498 likely benign Hereditary cancer-predisposing syndrome 2016-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Subpopulation frequency in support of benign classification
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114822 SCV000148717 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Invitae RCV000472323 SCV000555678 benign Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-09-01 criteria provided, single submitter clinical testing

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