ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.3936C>T (p.Thr1312=)

gnomAD frequency: 0.00034  dbSNP: rs775175131
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496621 SCV001701323 likely benign Congenital myasthenic syndrome 8 2024-03-27 criteria provided, single submitter clinical testing

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