ClinVar Miner

Submissions for variant NM_000790.3(DDC):c.629C>T (p.Pro210Leu) (rs6262)

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Total submissions: 4
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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 RCV000224842 SCV000280958 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596249 SCV000703287 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294389 SCV000469598 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000294389 SCV000760402 benign Deficiency of aromatic-L-amino-acid decarboxylase 2017-09-07 criteria provided, single submitter clinical testing

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