ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.913-42G>C

gnomAD frequency: 0.00013  dbSNP: rs529037188
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663275 SCV000786511 benign Multiple endocrine neoplasia, type 1 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000663275 SCV001725162 benign Multiple endocrine neoplasia, type 1 2025-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258999 SCV002530088 benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) RCV003230273 SCV003927267 benign Pituitary dependent hypercortisolism 2023-05-31 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV003311876 SCV004010078 benign not provided 2023-04-01 criteria provided, single submitter clinical testing MEN1: BS1, BS2

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