ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)

gnomAD frequency: 0.00009  dbSNP: rs202009066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198940 SCV000250592 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311057 SCV000320324 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-03 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003761818 SCV001003373 benign FG syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000198940 SCV004699060 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MED12: PP2, BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003985304 SCV004742206 likely benign MED12-related disorder 2021-10-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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