ClinVar Miner

Submissions for variant NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) (rs150226537)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082363 SCV000641752 benign Molybdenum cofactor deficiency, complementation group C 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000610229 SCV000744057 likely benign Molybdenum cofactor deficiency, complementation group A 2016-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000536404 SCV001149237 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610229 SCV000733396 likely benign Molybdenum cofactor deficiency, complementation group A no assertion criteria provided clinical testing

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