Variants studied for progressive familial heart block, type 1A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
16	9	304	39	17	377

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SCN5A	16	8	266	36	15	334
LOC110121269, SCN5A	0	1	36	3	2	41
HRC, TRPM4	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	12	6	162	10	5	195
Illumina Laboratory Services, Illumina	0	0	139	30	12	181
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	15	0	0	15
OMIM	4	0	0	0	0	4
Mendelics	0	0	2	0	0	2
UCLA Clinical Genomics Center, UCLA	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	1	0	0	0	1

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