Variants studied for Marshall-Smith syndrome; Malan overgrowth syndrome

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
25	7	43	82	15	2	173

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
NFIX	24	7	42	82	15	2	171
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1	1	0	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	23	4	40	82	15	0	164
New York Genome Center	0	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	1	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	0	1	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	1	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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