ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.3551A>T (p.Glu1184Val)

gnomAD frequency: 0.00242  dbSNP: rs150710381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002116113 SCV002404136 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002116113 SCV005249139 benign not provided criteria provided, single submitter not provided
GeneDx RCV002116113 SCV005396252 uncertain significance not provided 2024-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003933457 SCV004761741 benign CARMIL2-related disorder 2019-02-19 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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