ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1704C>T (p.Ile568=)

gnomAD frequency: 0.00092  dbSNP: rs139802880
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967693 SCV001115101 likely benign Desbuquois dysplasia 1 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222181 SCV003917497 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing XYLT1: BP4, BP7

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