ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.222T>C (p.Ile74=)

gnomAD frequency: 0.00001  dbSNP: rs759497648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001409470 SCV001611494 likely benign Carpenter syndrome 2022-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277918 SCV001464898 uncertain significance RAB23-related Carpenter syndrome 2020-08-14 no assertion criteria provided clinical testing

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