ClinVar Miner

Submissions for variant NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)

gnomAD frequency: 0.00164  dbSNP: rs142756983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173306 SCV000224405 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400384 SCV000384470 likely benign Autosomal recessive osteopetrosis 2 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000173306 SCV001047590 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907551 SCV004724291 likely benign TNFSF11-related disorder 2023-05-05 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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