ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.228A>T (p.Ala76=)

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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 RCV003598817 SCV004554956 likely benign Desbuquois dysplasia 1 2023-05-19 criteria provided, single submitter clinical testing

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