ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.390T>C (p.Cys130=)

dbSNP: rs2127998627
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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 RCV001955566 SCV002226640 likely benign Carpenter syndrome 2024-01-21 criteria provided, single submitter clinical testing

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