ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.240G>A (p.Lys80=)

gnomAD frequency: 0.00001  dbSNP: rs781825705
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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 RCV000192338 SCV000246828 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516657 SCV001724968 benign Temtamy syndrome 2024-10-17 criteria provided, single submitter clinical testing

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