ClinVar Miner

Submissions for variant NM_004526.4(MCM2):c.2370C>T (p.Asp790=)

gnomAD frequency: 0.00512  dbSNP: rs143447982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000969878 SCV000718006 benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Invitae RCV000969878 SCV001117417 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000599691 SCV001476540 benign not specified 2020-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917910 SCV004729319 benign MCM2-related condition 2019-04-08 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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