ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) (rs183880522)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180367 SCV000232780 uncertain significance not provided 2014-06-11 criteria provided, single submitter clinical testing
Invitae RCV000180367 SCV001023093 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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