ClinVar Miner

Submissions for variant NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys)

gnomAD frequency: 0.60108  dbSNP: rs2073618
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250490 SCV000309110 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291754 SCV000471576 benign Hyperphosphatasemia with bone disease 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga) RCV000250490 SCV000700902 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV001651170 SCV001864985 benign not provided 2021-06-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28728263, 25679449, 12096838, 18938269, 20205168, 15312251, 19131500, 19128145, 22965192, 19705167)
Genome-Nilou Lab RCV000291754 SCV002098582 benign Hyperphosphatasemia with bone disease 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001651170 SCV002325035 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651170 SCV005268029 benign not provided criteria provided, single submitter not provided

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