ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1350+6G>A

gnomAD frequency: 0.00002  dbSNP: rs746077651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687059 SCV000814610 likely benign Multiple endocrine neoplasia, type 1 2024-09-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000687059 SCV005403762 likely benign Multiple endocrine neoplasia, type 1 2024-08-08 criteria provided, single submitter clinical testing This variant is considered likely 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.

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