ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.671-3C>T

gnomAD frequency: 0.00002  dbSNP: rs374793979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593095 SCV000704447 uncertain significance not provided 2017-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962679 SCV004785826 likely benign MCPH1-related disorder 2023-04-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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