ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met)

gnomAD frequency: 0.00319  dbSNP: rs115033462
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347342 SCV000339327 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901631 SCV001046010 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000901631 SCV001770349 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000901631 SCV005220487 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930118 SCV004742753 benign MCPH1-related disorder 2019-03-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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