ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.117G>A (p.Lys39=)

gnomAD frequency: 0.00001  dbSNP: rs771469793
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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 RCV001465183 SCV001669166 likely benign Carpenter syndrome 2023-09-27 criteria provided, single submitter clinical testing

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