ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5748+16G>T

gnomAD frequency: 0.00122  dbSNP: rs199760183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198049 SCV000250580 benign not specified 2014-10-01 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.
Invitae RCV003765251 SCV002481997 benign FG syndrome 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701876 SCV001927826 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701876 SCV001958287 likely benign not provided no assertion criteria provided clinical testing

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