ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) (rs121908814)

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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 RCV000566096 SCV000664517 pathogenic Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114827 SCV000148722 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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