ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)

dbSNP: rs1353930135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605230 SCV000727370 likely benign not specified 2018-02-08 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 RCV003762824 SCV002150327 uncertain significance FG syndrome 2023-10-13 criteria provided, single submitter clinical testing This variant, c.6336_6362del, results in the deletion of 9 amino acid(s) of the MED12 protein (p.Gln2115_Gln2123del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MED12-related conditions. ClinVar contains an entry for this variant (Variation ID: 515307). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003133401 SCV003810881 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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