Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "pathogenic" from any submitter

Minimum review status of the submission from Eurofins NTD LLC (GA):		Collection method of the submission from Eurofins NTD LLC (GA):
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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)	rs1805124	0.24768
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)	rs1042602	0.24593
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)	rs446227	0.21425
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	rs3827760	0.05968
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04051
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)	rs79691946	0.03108
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	rs7626962	0.02208
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00995
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)	rs121908970	0.00599
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)	rs34924609	0.00359
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)	rs11571657	0.00288
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000531.6(OTC):c.298+5G>C	rs72554348	0.00058
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)	rs71245621
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)	rs61748536
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)	rs201314910
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)	rs113363047
Single allele

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.