Variants from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences with conflicting interpretations

Minimum review status of the submission from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences:	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: 2025-04-29

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
38	6	0	9	0	0	5	14

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
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences		pathogenic	likely pathogenic	uncertain significance
	pathogenic	0	4	1
	likely pathogenic	5	0	4

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
Labcorp Genetics (formerly Invitae), Labcorp	0	5	0	7	0	0	4	11
OMIM	0	3	0	2	0	0	0	2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	0	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	0	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	0	1	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	0	0	0	0	1	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	1	0	0	0	1
3billion	0	0	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)	rs754476100	0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	rs121909715	0.00001
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)	rs1315541036
NM_000454.5(SOD1):c.262G>A (p.Val88Met)	rs1568810641
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)	rs1378590183
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	rs121912456
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)	rs1568811423
NM_000454.5(SOD1):c.43G>A (p.Val15Met)	rs1568807400
NM_000454.5(SOD1):c.43G>C (p.Val15Leu)	rs1568807400
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp)	rs386833731
NM_001377265.1(MAPT):c.1795G>A (p.Gly599Ser)
NM_001377265.1(MAPT):c.2179G>A (p.Gly727Ser)	rs63750095
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)	rs867319899
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)