ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.675G>A (p.Lys225=)

gnomAD frequency: 0.00010  dbSNP: rs781622209
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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 RCV001435856 SCV001638687 likely benign Carpenter syndrome 2024-01-17 criteria provided, single submitter clinical testing

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