ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.410-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322669 SCV004027656 pathogenic Pheochromocytoma 2023-07-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP

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