ClinVar Miner

Submissions for variant NM_007373.3(SHOC2):c.894A>C (p.Ala298=) (rs767912952)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000519839 SCV000616498 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.894A>C (p.Ala298=) variant in the SHOC2 gene is 0.054% (9/8648) of East Asian 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)

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