ClinVar Miner

Submissions for variant NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) (rs8176038)

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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 RCV000514536 SCV000610495 benign not provided 2017-05-04 criteria provided, single submitter clinical testing
OMIM RCV000024078 SCV000045369 pathogenic Kel6 antigen 2003-10-15 no assertion criteria provided literature only

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