ClinVar Miner

Submissions for variant NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)

dbSNP: rs1382225004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV000758214 SCV001448656 uncertain significance Cardiac-urogenital syndrome 2020-11-11 criteria provided, single submitter clinical testing
OMIM RCV000758214 SCV000886734 pathogenic Cardiac-urogenital syndrome 2019-03-05 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291136 SCV001479512 likely pathogenic Heart, malformation of; Abnormality of the genitourinary system; Congenital diaphragmatic hernia no assertion criteria provided research

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