ClinVar Miner

Submissions for variant NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn)

gnomAD frequency: 0.00001  dbSNP: rs368477537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341863 SCV000338869 uncertain significance not provided 2016-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000341863 SCV002050614 uncertain significance not provided 2021-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Revvity Omics, Revvity RCV000341863 SCV003828646 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing

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