ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.208del (p.Asp70fs)

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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 RCV002468848 SCV002765023 likely pathogenic Pheochromocytoma 2022-12-09 criteria provided, single submitter clinical testing this variant was identified in an unaffected individual and reported as secondary finding according to ACMG_x000D_ Criteria applied: PVS1, PM2_SUP

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