ClinVar Miner

Submissions for variant NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg)

gnomAD frequency: 0.00059  dbSNP: rs199564693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202760 SCV000258115 uncertain significance not specified 2015-06-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692816 SCV005195758 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917831 SCV004734308 likely benign NCAPG2-related disorder 2019-05-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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