Variants with conflicting interpretations "likely benign" from Eurofins NTD LLC (GA) and "uncertain significance" from PreventionGenetics, part of Exact Sciences

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)	rs61755050	0.00371
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)	rs150860808	0.00120
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	rs142000963	0.00117
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)	rs2055006	0.00094
NM_001130987.2(DYSF):c.3756+9G>T	rs191746041	0.00081
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)	rs76086153	0.00080
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)	rs200173947	0.00074
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)	rs147545395	0.00068
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)	rs149659876	0.00044
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)	rs1800408	0.00024
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	rs199632397	0.00023
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)	rs142646842	0.00004
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)	rs375824753	0.00003
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)	rs572827902
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)	rs41550117
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)	rs794726924

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.