ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)

gnomAD frequency: 0.00293  dbSNP: rs36098987
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000953027 SCV001099572 likely benign Desbuquois dysplasia 1 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925966 SCV004740566 likely benign XYLT1-related disorder 2019-05-23 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729755 SCV001977779 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729754 SCV001980263 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001729754 SCV002036383 likely benign not provided no assertion criteria provided clinical testing

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