ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.547C>T (p.Leu183=)

gnomAD frequency: 0.00001  dbSNP: rs1473586028
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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 RCV002160306 SCV002412768 likely benign Carpenter syndrome 2023-06-20 criteria provided, single submitter clinical testing

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