Variants from Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham with conflicting interpretations

Minimum review status of the submission from Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2025-03-05

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
10	11	0	4	1	0	5	8

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All submitters
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham		pathogenic	likely pathogenic	uncertain significance	likely benign
	pathogenic	0	1	0	0
	likely pathogenic	3	0	2	0
	uncertain significance	2	3	0	1

Submitter to submitter summary #

Submitter	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	2	1	0	2	5
Labcorp Genetics (formerly Invitae), Labcorp	0	6	0	3	0	0	2	5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	0	1	0	2	0	0	2	4
Natera, Inc.	0	1	0	2	0	0	1	3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel	0	1	0	2	0	0	1	3
All of Us Research Program, National Institutes of Health	0	1	0	2	0	0	1	3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	0	1	0	1	0	0	1	2
Color Diagnostics, LLC DBA Color Health	0	2	0	2	0	0	0	2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	0	0	0	1	0	0	1	2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	0	1	0	2	0	0	0	2
Fundacion Hipercolesterolemia Familiar	0	2	0	1	0	0	1	2
Iberoamerican FH Network	0	1	0	0	0	0	2	2
OMIM	0	0	0	1	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	0	0	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	1	0	0	0	1
Revvity Omics, Revvity	0	3	0	1	0	0	0	1
MGZ Medical Genetics Center	0	0	0	1	0	0	0	1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital	0	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	1	0	0	0	1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	0	0	0	1	0	0	0	1
Robarts Research Institute, Western University	0	2	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	0	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	1	0	1	0	0	0	1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)	rs368278927	0.00009
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)	rs28942080
NM_000527.5(LDLR):c.1586+5G>C	rs781362878
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)	rs879254534
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	rs879254659