ClinVar Miner

Submissions for variant NM_001382.4(DPAGT1):c.187G>A (p.Gly63Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223490 SCV003918947 likely pathogenic Congenital myasthenic syndrome 13 2023-04-20 criteria provided, single submitter research
Revvity Omics, Revvity RCV003491346 SCV004234402 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing

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