ClinVar Miner

Submissions for variant NM_002546.4(TNFRSF11B):c.558C>T (p.Ser186=)

gnomAD frequency: 0.00484  dbSNP: rs11573923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947128 SCV001093299 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158578 SCV001320224 benign Hyperphosphatasemia with bone disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV000947128 SCV005268022 benign not provided criteria provided, single submitter not provided

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