ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg)

gnomAD frequency: 0.00139  dbSNP: rs370511358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000957382 SCV001104183 likely benign Desbuquois dysplasia 1 2024-01-15 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796331 SCV002036349 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796331 SCV002037855 likely benign not provided no assertion criteria provided clinical testing

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