ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) (rs45479896)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Illumina Clinical Services Laboratory,Illumina RCV000339958 SCV000464338 uncertain significance Carpenter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547220 SCV000637230 benign Carpenter syndrome 1 2017-10-30 criteria provided, single submitter clinical testing

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