Variants studied for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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	not provided	total
27	18	327	281	25	1	678

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PARN	27	18	327	281	25	1	678

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	27	17	327	281	25	0	677
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	2	0	0	0	3
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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