ClinVar Miner

Submissions for variant NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) (rs41285470)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084970 SCV000641757 likely benign Molybdenum cofactor deficiency, complementation group C 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000615079 SCV000744058 likely benign Molybdenum cofactor deficiency, complementation group A 2015-08-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000525871 SCV001149238 likely benign not provided 2016-11-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615079 SCV000733397 likely benign Molybdenum cofactor deficiency, complementation group A no assertion criteria provided clinical testing

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