ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.541T>C (p.Leu181=)

gnomAD frequency: 0.00007  dbSNP: rs148434592
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117616 SCV002410325 likely benign Desbuquois dysplasia 1 2025-01-06 criteria provided, single submitter clinical testing

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