ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4863+15C>T

gnomAD frequency: 0.00004  dbSNP: rs778076528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604403 SCV000728240 likely benign not specified 2018-03-09 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 RCV003767720 SCV002389113 benign FG syndrome 2023-10-19 criteria provided, single submitter clinical testing

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