ClinVar Miner

Submissions for variant NM_017760.7(NCAPG2):c.130A>G (p.Arg44Gly)

gnomAD frequency: 0.00330  dbSNP: rs115095115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888733 SCV001032386 benign not provided 2018-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888733 SCV004159374 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing NCAPG2: BS1
Breakthrough Genomics, Breakthrough Genomics RCV000888733 SCV005269586 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920723 SCV004745217 benign NCAPG2-related disorder 2019-05-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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