Variants with conflicting interpretations "likely pathogenic" from Sydney Genome Diagnostics, Children's Hospital Westmead and "pathogenic" from any submitter

Minimum review status of the submission from Sydney Genome Diagnostics, Children's Hospital Westmead:		Collection method of the submission from Sydney Genome Diagnostics, Children's Hospital Westmead:
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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	rs754579374	0.00004
NM_004183.4(BEST1):c.400C>G (p.Leu134Val)	rs753614067	0.00001
NM_015102.5(NPHP4):c.1075C>T (p.Gln359Ter)	rs1430741326	0.00001
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	rs889417696	0.00001
NM_000091.5(COL4A3):c.2323_2340del (p.772LPG[1])	rs1306992119
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)	rs745340459
NM_024685.4(BBS10):c.2122_2123del (p.Lys708fs)	rs1951753208
NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs)	rs1446729264

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.