ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=)

gnomAD frequency: 0.95903  dbSNP: rs8092336
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244029 SCV000309847 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306408 SCV000410025 likely benign Osteopetrosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000344991 SCV000410026 likely benign Bone Paget disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000244029 SCV000540554 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Invitae RCV001512752 SCV001720212 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001512752 SCV001903636 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838575 SCV002098578 benign Familial expansile osteolysis 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838576 SCV002098579 benign Autosomal recessive osteopetrosis 7 2021-09-10 criteria provided, single submitter clinical testing

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