ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=)

gnomAD frequency: 0.00043  dbSNP: rs139156211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422054 SCV001624592 likely benign Desbuquois dysplasia 1 2024-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920919 SCV004736274 likely benign XYLT1-related disorder 2019-05-01 no assertion criteria provided 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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