ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)

gnomAD frequency: 0.11850  dbSNP: rs1040461
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279277 SCV000464334 likely benign Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000279277 SCV001729655 benign Carpenter syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001530494 SCV001745344 benign RAB23-related Carpenter syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001764325 SCV001989077 benign not provided 2018-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29416296)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805026 SCV002050741 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001530494 SCV002083434 benign RAB23-related Carpenter syndrome 2019-11-21 no assertion criteria provided clinical testing

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