ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser)

gnomAD frequency: 0.00046  dbSNP: rs146288199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966430 SCV001113751 benign Desbuquois dysplasia 1 2025-01-22 criteria provided, single submitter clinical testing

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