ClinVar Miner

Submissions for variant NM_013339.4(ALG6):c.915G>T (p.Thr305=)

dbSNP: rs112769742
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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 RCV001486409 SCV001690865 likely benign ALG6-congenital disorder of glycosylation 1C 2022-09-12 criteria provided, single submitter clinical testing

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