ClinVar Miner

Submissions for variant NM_015221.4(DNMBP):c.1332C>T (p.Pro444=)

gnomAD frequency: 0.47476  dbSNP: rs2862923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661465 SCV001875648 benign Cataract 48 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718950 SCV005320743 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984041 SCV004796519 benign DNMBP-related disorder 2019-10-21 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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