ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)

gnomAD frequency: 0.00024  dbSNP: rs372508479
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000880714 SCV001023833 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000880714 SCV001475894 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000880714 SCV002049255 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000880714 SCV003811370 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975520 SCV004790063 likely benign HSPG2-related condition 2019-03-22 criteria provided, single submitter 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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