ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.2784G>A (p.Pro928=)

gnomAD frequency: 0.00007  dbSNP: rs150334363
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
Invitae RCV001956295 SCV002240096 likely benign Desbuquois dysplasia 1 2024-01-02 criteria provided, single submitter clinical testing

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