ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.258A>C (p.Gly86=)

gnomAD frequency: 0.00009  dbSNP: rs1354379384
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 RCV002154732 SCV002332673 likely benign Desbuquois dysplasia 1 2024-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706279 SCV005213430 likely benign not provided criteria provided, single submitter not provided

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