ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)

dbSNP: rs386134259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030209 SCV000052876 likely pathogenic Multiple endocrine neoplasia, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, Yonsei University College of Medicine RCV000030209 SCV005043075 likely pathogenic Multiple endocrine neoplasia, type 1 2024-05-01 criteria provided, single submitter clinical testing

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