ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.139T>C (p.Leu47=)

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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 RCV002881030 SCV003235745 likely benign Carpenter syndrome 2022-09-10 criteria provided, single submitter clinical testing

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