ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.497-4G>C

dbSNP: rs771175893
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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 RCV001467632 SCV001671659 likely benign DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 2024-03-01 criteria provided, single submitter clinical testing

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