ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.24C>T (p.Val8=)

gnomAD frequency: 0.00001  dbSNP: rs752991124
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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 RCV001435037 SCV001637855 likely benign Carpenter syndrome 2023-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264319 SCV002545427 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing RAB23: BP4, BP7

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