ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)

dbSNP: rs6457479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278181 SCV002566192 likely benign Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494754 SCV002794934 likely benign Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-09-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706736 SCV005225574 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004751402 SCV000313349 benign TNXB-related disorder 2024-05-09 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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