ClinVar Miner

Submissions for variant NM_007373.3(SHOC2):c.1423-7C>T (rs180671383)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000225847 SCV000616499 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1423-7C>T variant in the SHOC2 gene is 1.826% (183/8836) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128043 SCV000345261 benign not specified 2016-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000128043 SCV000171634 benign not specified 2012-02-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000378009 SCV000360448 likely benign Noonan syndrome-like disorder with loose anagen hair 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000225847 SCV000289855 benign Rasopathy 2017-12-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128043 SCV000311805 benign not specified criteria provided, single submitter clinical testing

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