ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6747A>C (p.Val2249=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005815 SCV003306852 likely benign Cohen syndrome 2022-01-27 criteria provided, single submitter clinical testing

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