Variants studied for Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

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)

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
133	82	1285	1788	92	3362

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RTEL1, RTEL1-TNFRSF6B	121	77	1276	1788	92	3336
RTEL1	9	5	5	0	0	19
RTEL1, TNFRSF6B	1	0	2	0	0	3
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3	0	0	1	0	0	1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3, TNFRSF6B	1	0	0	0	0	1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3	1	0	0	0	0	1
LOC128772425, LOC128772426, RTEL1, RTEL1-TNFRSF6B	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	132	62	1256	1787	92	3329
Fulgent Genetics, Fulgent Genetics	4	25	93	3	0	125
Department of Pathology and Laboratory Medicine, Sinai Health System	1	1	7	0	1	10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	6	0	0	7
New York Genome Center	1	0	0	0	0	1

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