ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) (rs187043152)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455350 SCV000540696 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in a sporadic case with TOF (De Luca 2011), one homozygous case with 46,XY gonadal dysgenesis (Bashamboo 2014), one case with congenital diaphragmatic hernia and was inherited from the mother (Longoni 2015). ExAC freq 0.5%.
Invitae RCV000144723 SCV000557286 benign 46,XY sex reversal 9 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514546 SCV000609541 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing
Mendelics RCV000144723 SCV001137695 likely benign 46,XY sex reversal 9 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000032716 SCV000056480 pathogenic Tetralogy of Fallot 2014-07-15 no assertion criteria provided literature only
OMIM RCV000144723 SCV000190930 pathogenic 46,XY sex reversal 9 2014-07-15 no assertion criteria provided literature only
Reproductive Development, Murdoch Childrens Research Institute RCV001007702 SCV001146899 benign 46,XY sex reversal, type 3 2019-08-26 no assertion criteria provided research

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