ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3445+7_3445+9dup

dbSNP: rs1335342521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517485 SCV000616270 uncertain significance not specified 2016-10-14 criteria provided, single submitter clinical testing
Invitae RCV000979371 SCV001127312 likely benign Cohen syndrome 2023-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942704 SCV004776281 likely benign VPS13B-related disorder 2023-08-28 criteria provided, single submitter 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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