ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.242-31ATTG[6]

dbSNP: rs45542438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401730 SCV000464339 uncertain significance Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001560987 SCV001783502 likely benign not provided 2023-04-07 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000401730 SCV002445968 benign Carpenter syndrome 2024-01-31 criteria provided, single submitter clinical testing

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