ClinVar Miner

Submissions for variant NM_003246.4(THBS1):c.1567A>G (p.Thr523Ala)

gnomAD frequency: 0.21845  dbSNP: rs2292305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455296 SCV000540527 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
Breakthrough Genomics, Breakthrough Genomics RCV004715230 SCV005296208 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972749 SCV004795966 benign THBS1-related disorder 2019-10-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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