ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1686G>A (p.Lys562=)

gnomAD frequency: 0.00008  dbSNP: rs143303539
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 RCV000978534 SCV001126463 likely benign Desbuquois dysplasia 1 2025-01-29 criteria provided, single submitter clinical testing

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