ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1540+8C>T (rs771283010)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522791 SCV000616500 likely benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.1540+8C>T variant in the SHOC2 gene is 0.0374% (34/66702) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Invitae RCV000522791 SCV000659156 benign Rasopathy 2017-06-20 criteria provided, single submitter clinical testing

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