ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn)

gnomAD frequency: 0.00690  dbSNP: rs3813188
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245361 SCV000317034 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514069 SCV000609941 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing
Invitae RCV001085288 SCV000653905 benign Congenital myasthenic syndrome 8 2024-01-24 criteria provided, single submitter clinical testing

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