ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.534T>C (p.Ala178=)

gnomAD frequency: 0.00004  dbSNP: rs201820320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914219 SCV001059385 benign Carpenter syndrome 2024-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836010 SCV002083437 likely benign RAB23-related Carpenter syndrome 2020-02-26 no assertion criteria provided clinical testing

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