ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.52+26_52+54del

dbSNP: rs781901992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194765 SCV000246830 likely benign not specified 2015-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229016 SCV002509800 benign Temtamy syndrome 2025-02-04 criteria provided, single submitter clinical testing

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