ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.664G>C (p.Glu222Gln)

gnomAD frequency: 0.00006  dbSNP: rs371133001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508208 SCV001714208 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing PP3
GeneDx RCV001508208 SCV001998605 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005038245 SCV005667441 uncertain significance Shwachman-Diamond syndrome 1; Aplastic anemia 2024-03-02 criteria provided, single submitter clinical testing

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