ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2748C>A (p.Gly916=)

gnomAD frequency: 0.00003  dbSNP: rs768686458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608542 SCV000728089 likely benign not specified 2018-02-28 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 RCV003762826 SCV002367908 benign FG syndrome 2021-10-14 criteria provided, single submitter clinical testing

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