ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg)

gnomAD frequency: 0.33080  dbSNP: rs6504649
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989952 SCV001140698 benign Spondylo-ocular syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001642196 SCV001859893 benign not provided 2020-11-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16571645)
Invitae RCV001642196 SCV002358765 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989952 SCV002514059 benign Spondylo-ocular syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276528 SCV002565090 benign Osteogenesis imperfecta 2022-07-16 criteria provided, single submitter clinical testing
OMIM RCV000002642 SCV000022800 risk factor Pseudoxanthoma elasticum, modifier of severity of 2006-09-01 no assertion criteria provided literature only

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