ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.-3C>T

gnomAD frequency: 0.00178  dbSNP: rs113296395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733490 SCV001983936 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821973 SCV002068480 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001733490 SCV004134343 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing C12orf57: BP4, BS2; ENSG00000272173: BS2
PreventionGenetics, part of Exact Sciences RCV003931310 SCV004741723 likely benign C12orf57-related disorder 2019-05-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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