ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=)

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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 RCV003828843 SCV004625850 likely benign Cohen syndrome 2023-04-28 criteria provided, single submitter clinical testing

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