ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5535C>T (p.Asn1845=) (rs34784349)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081267 SCV000113175 benign not specified 2013-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000081267 SCV000170239 benign not specified 2014-05-23 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.
PreventionGenetics,PreventionGenetics RCV000081267 SCV000310839 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243489 SCV000319456 benign Cardiovascular phenotype 2014-11-25 criteria provided, single submitter clinical testing
Invitae RCV000460000 SCV000559588 benign FG syndrome 1 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716061 SCV000846894 benign History of neurodevelopmental disorder 2014-11-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago RCV000081267 SCV000151829 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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