ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.755C>T (p.Ala252Val)

gnomAD frequency: 0.00237  dbSNP: rs114331585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514012 SCV000610409 likely benign not provided 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV000514012 SCV001055913 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935350 SCV004748843 benign CHAMP1-related condition 2019-04-11 criteria provided, single submitter 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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