ClinVar Miner

Submissions for variant NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) (rs145463534)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000476332 SCV000616502 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1594A>G (p.Ser532Gly) variant in the SHOC2 gene is 1.147% (138/10402) 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)
GeneDx RCV000128044 SCV000171635 benign not specified 2013-10-22 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 RCV000290434 SCV000360449 likely benign Noonan syndrome-like disorder with loose anagen hair 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476332 SCV000559052 benign Rasopathy 2017-11-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128044 SCV000311807 benign not specified criteria provided, single submitter clinical testing

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