ClinVar Miner

Submissions for variant NM_002430.3(MN1):c.912GCA[5] (p.Gln309del)

dbSNP: rs747503495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000505688 SCV000599940 other Hepatoblastoma 2016-05-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003979905 SCV004792556 benign MN1-related disorder 2019-05-02 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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