ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.349+17dup

dbSNP: rs780939646
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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 RCV002118122 SCV002408770 benign Congenital myasthenic syndrome 12 2023-07-25 criteria provided, single submitter clinical testing

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