ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1880-13C>A

gnomAD frequency: 0.00009  dbSNP: rs948277023
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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 RCV002089902 SCV002325073 likely benign Multiple endocrine neoplasia, type 2 2024-01-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004793718 SCV005403617 likely benign Multiple endocrine neoplasia type 2A 2024-08-09 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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