ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "likely benign" from Department of Pathology and Laboratory Medicine, Sinai Health System

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:
ClinVar version:
Total variants with conflicting interpretations: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00129
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087

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.