ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.482-13C>G

gnomAD frequency: 0.00037  dbSNP: rs372666007
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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 RCV002179253 SCV002487366 likely benign Carpenter syndrome 2024-01-25 criteria provided, single submitter clinical testing

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