ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2393-8G>A

gnomAD frequency: 0.00005  dbSNP: rs376151644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463590 SCV000556208 likely benign Multiple endocrine neoplasia, type 2 2023-12-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000463590 SCV004830677 likely benign Multiple endocrine neoplasia, type 2 2023-12-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004791478 SCV005403642 benign Multiple endocrine neoplasia type 2A 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.

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