ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.371_372del (p.Val124fs)

dbSNP: rs1555166368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626631 SCV000747332 pathogenic Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198162 SCV001369017 pathogenic Multiple endocrine neoplasia, type 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.

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