Variants studied for congenital bile acid synthesis defect 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	total
2	1	219	149	20	378

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
AMACR, C1QTNF3-AMACR	2	1	214	143	16	364
AMACR, C1QTNF3-AMACR, SLC45A2	0	0	0	6	4	9
AMACR	0	0	2	0	0	2
AGXT2, AMACR, BRIX1, C1QTNF3, DNAJC21, PRLR, RAD1, RAI14, SLC45A2, TTC23L	0	0	1	0	0	1
AMACR, BRIX1, C1QTNF3, DNAJC21, RAD1, RAI14, TTC23L	0	0	1	0	0	1
AMACR, SLC45A2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	0	176	133	14	324
Illumina Laboratory Services, Illumina	1	0	48	16	13	78
Fulgent Genetics, Fulgent Genetics	0	0	5	1	0	6
Genome-Nilou Lab	0	0	0	0	6	6
Mendelics	0	0	2	0	2	4
OMIM	2	0	0	0	0	2
MGZ Medical Genetics Center	0	1	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	1	0	0	1

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