Variants studied for HNSHA due to aldolase A 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
5	5	111	105	11	1	224

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ALDOA, LOC112694756	4	4	109	105	11	1	220
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3	1	0	1	0	0	0	2
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16	0	1	0	0	0	0	1
ALDOA, LOC112694756, LOC130058806, LOC130058807	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	3	2	79	102	11	0	197
Revvity Omics, Revvity	0	0	22	0	0	0	22
Illumina Laboratory Services, Illumina	0	0	21	1	0	0	22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	4	5	6	0	15
OMIM	2	0	0	0	0	0	2
Mendelics	0	0	0	1	1	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Solve-RD Consortium	0	1	0	0	0	0	1

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