ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)

dbSNP: rs757160341
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705115 SCV000250584 likely benign not provided 2022-05-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga) RCV000200223 SCV000342962 likely benign not specified 2016-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317722 SCV000849468 benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-28 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.
Ambry Genetics RCV000718604 SCV000851843 uncertain significance History of neurodevelopmental disorder 2010-12-16 criteria provided, single submitter clinical testing
Invitae RCV003595885 SCV001007528 benign FG syndrome 2024-01-25 criteria provided, single submitter clinical testing

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