Variants studied for Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9

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)

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
70	38	930	1537	110	3	2683

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
KIF1A	68	37	896	1472	104	2	2576
KIF1A, LOC126806583	1	1	31	65	6	1	104
AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, IFT54, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TWIST2, UBE2F	1	0	1	0	0	0	2
AGXT, KIF1A	0	0	2	0	0	0	2

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	70	38	927	1537	110	0	2681
Baylor Genetics	2	0	0	0	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	0	2	2
New York Genome Center	0	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	1	0	0	0	1

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