ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.655-5dup

dbSNP: rs772016629
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411902 SCV000488904 likely benign Multiple endocrine neoplasia, type 1 2016-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411902 SCV000554168 benign Multiple endocrine neoplasia, type 1 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001706621 SCV001844823 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256225 SCV002530078 likely benign Hereditary cancer-predisposing syndrome 2021-11-29 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000411902 SCV004018050 benign Multiple endocrine neoplasia, type 1 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321585 SCV004027122 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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