ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)

gnomAD frequency: 0.00010  dbSNP: rs199588257
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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 RCV001446159 SCV001649202 likely benign Desbuquois dysplasia 1 2023-09-23 criteria provided, single submitter clinical testing

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