ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr)

gnomAD frequency: 0.12362  dbSNP: rs35211496
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363657 SCV000410009 likely benign Osteopetrosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269060 SCV000410010 likely benign Bone Paget disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454965 SCV000540552 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: Frequency
Invitae RCV001520708 SCV001729880 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278504 SCV002564690 benign Increased bone mineral density 2022-06-17 criteria provided, single submitter clinical testing

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