ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.48G>C (p.Gly16=)

gnomAD frequency: 0.00001  dbSNP: rs1454253077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921603 SCV001067013 likely benign Carpenter syndrome 2024-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825859 SCV002083444 likely benign RAB23-related Carpenter syndrome 2020-01-25 no assertion criteria provided clinical testing

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