Variants studied for Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

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
4	2	1	1	0	1	7

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	not provided	total
MRPL44	4	2	1	1	1	7

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
OMIM	4	0	0	0	0	4
Baylor Genetics	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
UCLA Clinical Genomics Center, UCLA	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1

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