ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.171T>C (p.Asp57=)

gnomAD frequency: 0.00004  dbSNP: rs368714271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000886778 SCV001030305 likely benign Carpenter syndrome 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968058 SCV004777256 likely benign RAB23-related disorder 2022-05-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001830940 SCV002083439 likely benign RAB23-related Carpenter syndrome 2020-03-04 no assertion criteria provided clinical testing

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