ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1248C>T (p.Asn416=) (rs116071049)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000676668 SCV000232767 uncertain significance not provided 2014-12-08 criteria provided, single submitter clinical testing
Invitae RCV001082728 SCV000634110 likely benign Familial infantile myasthenia 2020-12-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676668 SCV000802463 likely benign not provided 2016-03-08 no assertion criteria provided clinical testing
GeneDx RCV000676668 SCV001802571 likely benign not provided 2021-01-12 no assertion criteria provided clinical testing

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