ClinVar Miner

Submissions for variant NM_020806.4(GPHN):c.127G>T (p.Val43Leu) (rs117256383)

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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 RCV000440362 SCV000511330 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000533376 SCV000641743 benign Molybdenum cofactor deficiency, complementation group C 2017-12-18 criteria provided, single submitter clinical testing

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