ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.720C>A (p.Leu240=)

dbSNP: rs759714493
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779662 SCV002015398 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003772131 SCV004638687 likely benign RASopathy 2023-12-20 criteria provided, single submitter clinical testing

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