ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1975-5C>T

gnomAD frequency: 0.00004  dbSNP: rs200891932
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602695 SCV000717723 likely benign not specified 2017-03-28 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 RCV003596058 SCV001720332 benign FG syndrome 2024-01-06 criteria provided, single submitter clinical testing

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