Variants studied for familial chilblain lupus

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
46	16	284	132	33	502

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ATRIP, ATRIP-TREX1, TREX1	43	13	259	126	11	444
SAMHD1	2	3	14	6	12	36
SAMHD1, TLDC2	0	0	11	0	9	20
AMIGO3, AMT, APEH, ARIH2, ARIH2OS, BSN, C3orf62, CAMKV, CCDC71, CDHR4, CELSR3, CIMIP7, COL7A1, DAG1, DALRD3, GMPPB, GNAI2, GNAT1, GPX1, HYAL1, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KLHDC8B, LAMB2, LSMEM2, MIR191, MON1A, MST1, MST1R, NAA80, NCKIPSD, NDUFAF3, NICN1, P4HTM, PFKFB4, PRKAR2A, QARS1, QRICH1, RBM5, RBM6, RHOA, RNF123, SEMA3B, SEMA3F, SHISA5, SLC25A20, SLC26A6, SLC38A3, TCTA, TMEM89, TRAIP, TREX1, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6	1	0	0	0	0	1
LOC130065805, SAMHD1	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	43	5	259	124	11	442
Illumina Laboratory Services, Illumina	0	0	22	5	20	47
Fulgent Genetics, Fulgent Genetics	1	7	7	1	0	16
Institute of Neurology, Charite University of Medicine	0	1	0	2	0	3
Baylor Genetics	2	0	0	0	0	2
New York Genome Center	0	1	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
OMIM	1	0	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Solve-RD Consortium	0	1	0	0	0	1

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