ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.1716C>T (p.Cys572=)

gnomAD frequency: 0.00005  dbSNP: rs765001631
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000907124 SCV001051812 likely benign Desbuquois dysplasia 1 2022-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950674 SCV004766351 likely benign XYLT1-related condition 2019-03-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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