ClinVar Miner

Submissions for variant NM_005862.3(STAG1):c.1150G>C (p.Asp384His)

dbSNP: rs1057524850
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440296 SCV000536614 likely pathogenic not provided 2019-05-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV004545769 SCV000840197 not provided STAG1-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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