ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.1159C>T (p.Leu387=)

gnomAD frequency: 0.00005  dbSNP: rs754054503
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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 RCV001505386 SCV001710286 likely benign ALG6-congenital disorder of glycosylation 1C 2023-05-21 criteria provided, single submitter clinical testing

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