Variants with conflicting interpretations "likely pathogenic" from Molecular Genetics Laboratory, London Health Sciences Centre and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, London Health Sciences Centre:		Collection method of the submission from Molecular Genetics Laboratory, London Health Sciences Centre:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)	rs144860227	0.00032
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	rs387906991	0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)	rs200728983	0.00003
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)	rs572010627	0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)	rs1303837541	0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	rs759785462	0.00001
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	rs1602348662
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)	rs1597597627
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)	rs1571818632
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875
NM_181882.3(PRX):c.3198del (p.Phe1066fs)	rs1599651549

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.