Variants studied for Familial melanoma

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
108	34	1063	606	23	1	1831

Gene and significance breakdown #

Total genes and gene combinations: 14

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CDKN2A	100	34	546	233	14	0	923
CDK4	2	0	259	190	4	0	455
CDK4, TSPAN31	0	0	168	129	1	0	298
CDK4, LOC130008148	0	0	61	31	0	0	92
CDKN2A, LOC130001603	2	0	18	6	3	0	29
CDK4, MIR6759, TSPAN31	0	0	1	17	1	0	19
CDKN2A, CDKN2B	1	0	4	0	0	0	5
CDKN2A, LOC130001603, LOC130001604, LOC130001605	1	0	3	0	0	0	4
AGAP2, ARHGAP9, ARHGEF25, B4GALNT1, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIR616, NDUFA4L2, NXPH4, OS9, PIP4K2C, R3HDM2, SHMT2, STAC3, TSFM, TSPAN31	0	0	1	0	0	0	1
BAP1, DNAH1	1	0	0	0	0	0	1
CDK4, CYP27B1, MARCHF9	0	0	1	0	0	0	1
CDK4, LOC130008148, MIR6759, TSPAN31	0	0	1	0	0	0	1
CDKN2A, LOC130001603, LOC130001604	1	0	0	0	0	0	1
TP53	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	106	31	1063	606	23	0	1829
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	10	6	0	0	0	0	16
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	2	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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