ClinVar Miner

Submissions for variant NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)

dbSNP: rs797044994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093435 SCV001250412 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
OMIM RCV000190492 SCV000245364 pathogenic Galloway-Mowat syndrome 1 2015-06-29 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849332 SCV002107064 likely pathogenic Nephrotic syndrome 2017-11-10 no assertion criteria provided literature only

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