ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.2597G>A (p.Arg866Gln)

gnomAD frequency: 0.00572  dbSNP: rs140263068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521060 SCV001730314 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001521060 SCV002585575 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CARMIL2: BS2
PreventionGenetics, part of Exact Sciences RCV003931129 SCV004744990 likely benign CARMIL2-related disorder 2020-02-24 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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