ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3942T>C (p.Ser1314=)

gnomAD frequency: 0.00010  dbSNP: rs3810670
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698212 SCV000529070 benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003761998 SCV000630350 benign FG syndrome 2023-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313104 SCV000739161 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002502559 SCV002809423 likely benign X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type 2021-10-18 criteria provided, single submitter clinical testing

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