ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)

gnomAD frequency: 0.00001  dbSNP: rs1422779785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596022 SCV000630349 likely benign FG syndrome 2023-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001770414 SCV002002248 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 458816; Landrum et al., 2016)

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