Variants from The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University with conflicting interpretations

Minimum review status of the submission from The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University:	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: 2021-05-29 2021-05-01 2021-03-28 2021-03-02 2021-01-31 2021-01-02 2019-12-02 2019-11-05 2019-10-01 2019-09-02 2019-07-31 2019-07-01 2019-06-03 2019-05-03 2019-04-03 2019-03-05 2019-02-04 2018-12-31 2018-12-04 2018-10-29 2018-10-01 2018-09-03 2018-07-30 2018-07-03 2018-06-05 2018-04-30 2018-04-03 2018-02-27 2018-01-29 2018-01-01 2017-12-04 2017-10-30 2017-10-01 2017-09-04 2017-07-31 2017-07-03 2017-05-29 2017-05-01 2017-04-03 2017-02-27 2017-01-30 2017-01-04 2016-11-28 2016-10-31 2016-10-03 2016-08-30 2016-08-01 2016-07-04 2016-05-30 2016-05-02 2016-04-11 2016-03-01 2016-02-02 2016-01-04 2015-11-30 2015-11-02 2015-09-14 2015-08-24 2015-08-03 2015-06-29 2015-06-02 2015-05-04 2015-03-24 2015-03-04 2015-02-02 2015-01-05 2014-12-01 2014-11-02 2014-09-22 2014-09-01 2014-08-07 2014-07-01 2014-06-02 2014-04-28 2014-04-01 2014-03-06 2014-02-11 2013-12-30 2013-12-03 2013-11-06 2013-09-30 2013-09-12 2013-08-08 2013-05-05 2013-04-08 2013-01-24 2012-11-16

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
82	16	1	6	0	0	3	9

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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University		pathogenic	likely pathogenic	uncertain significance
	pathogenic	1	4	1
	likely pathogenic	2	0	1
	benign	1	1	0

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
ClinGen PAH Variant Curation Expert Panel	0	5	0	3	0	0	0	3
Baylor Genetics	0	3	0	1	0	0	1	2
Invitae	0	4	0	0	0	0	2	2
OMIM	0	7	0	1	0	0	0	1
Integrated Genetics/Laboratory Corporation of America	0	3	0	0	0	0	1	1
Natera, Inc.	0	2	0	0	0	0	1	1
Mendelics	0	0	0	1	0	0	0	1
GeneReviews	0	0	1	0	0	0	0	1
Fulgent Genetics,Fulgent Genetics	0	1	0	1	0	0	0	1
Illumina Clinical Services Laboratory,Illumina	0	0	0	0	0	0	1	1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	0	0	0	0	0	0	1	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	0	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	0	0	0	0	1	1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City	0	0	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	1	0	0	0	1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City	0	0	0	1	0	0	0	1
Myriad Women's Health, Inc.	0	1	0	0	0	0	1	1

All variants with conflicting interpretations #

HGVS	dbSNP
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	rs28940868
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)	rs138577661
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)	rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	rs1592947508
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	rs1592945394
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)	rs387907236