ClinVar Miner

Submissions for variant NM_138927.4(SON):c.5929C>T (p.Arg1977Cys)

dbSNP: rs1250702016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752025 SCV001986738 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001752025 SCV004519970 likely benign not provided 2024-06-26 criteria provided, single submitter clinical testing

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