ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.2284-6C>T

gnomAD frequency: 0.00030  dbSNP: rs201483154
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001686948 SCV001904990 benign not provided 2020-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948672 SCV004764226 likely benign MYT1L-related disorder 2019-11-06 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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