ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468218 SCV004199766 likely pathogenic ALG6-congenital disorder of glycosylation 1C 2024-01-25 criteria provided, single submitter clinical testing

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