ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2014-15A>G

dbSNP: rs1811373750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223437 SCV002501795 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003605773 SCV004551189 likely benign Cohen syndrome 2023-11-12 criteria provided, single submitter clinical testing

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