ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)

gnomAD frequency: 0.00589  dbSNP: rs45479896
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339958 SCV000464338 uncertain significance Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000424519 SCV000511506 likely benign not provided 2017-01-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000339958 SCV000637230 benign Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449940 SCV001653397 likely benign RAB23-related Carpenter syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000424519 SCV001783333 likely benign not provided 2024-07-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000424519 SCV004810885 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing RAB23: BP4, BS2
Natera, Inc. RCV001449940 SCV002083438 benign RAB23-related Carpenter syndrome 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003972506 SCV004793457 benign RAB23-related disorder 2019-09-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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