ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2981+13G>A

gnomAD frequency: 0.00105  dbSNP: rs73214870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197322 SCV000250591 benign not specified 2015-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761817 SCV002361268 benign FG syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713404 SCV005274604 benign not provided criteria provided, single submitter not provided

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