ClinVar Miner

Submissions for variant NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=)

gnomAD frequency: 0.38894  dbSNP: rs11540994
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001588040 SCV001822185 benign Holoprosencephaly 12 with or without pancreatic agenesis 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001588041 SCV001822186 benign Vissers-Bodmer syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001717835 SCV001939830 benign not provided 2019-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001717835 SCV002409480 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717835 SCV005251780 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983989 SCV004796272 benign CNOT1-related disorder 2019-10-18 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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