ClinVar Miner

Submissions for variant NM_000047.2(ARSL):c.775C>G (p.His259Asp) (rs138149353)

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Total submissions: 2
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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 RCV000224683 SCV000281109 likely benign not provided 2014-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001088865 SCV001017225 benign X-linked chondrodysplasia punctata 1 2019-12-31 criteria provided, single submitter clinical testing

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