ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.429A>G (p.Leu143=)

dbSNP: rs1186623990
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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 RCV002140061 SCV002454339 likely benign Carpenter syndrome 2023-08-07 criteria provided, single submitter clinical testing

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