Variants studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy

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	total
79	14	3196	2178	248	5715

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PLEC	77	13	3178	2165	245	5678
LOC130001334, PLEC	1	0	15	13	3	32
ADCK5, BOP1, CATSPERQ, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SACK1H, SCRIB, SCRT1, SCX, SHARPIN, SLC33A2, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707	0	0	1	0	0	1
ADCK5, BOP1, CATSPERQ, CCDC166, CPSF1, CYC1, DGAT1, EEF1D, EPPK1, EXOSC4, FBXL6, FOXH1, GFUS, GLI4, GPAA1, GPIHBP1, GRINA, GSDMD, HGH1, HSF1, KIFC2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PUF60, PYCR3, RHPN1, SACK1H, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707	1	0	0	0	0	1
ADCK5, BOP1, CATSPERQ, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TONSL, VPS28, ZFTRAF1	0	0	1	0	0	1
LOC121331314, LOC130001337, LOC130001338, LOC130001339, LOC130001340, LOC130001341, LOC130001342, LOC130001343, LOC130001344, PLEC	0	1	0	0	0	1
MIR661, PLEC	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	79	13	3194	2178	248	5712
Fulgent Genetics, Fulgent Genetics	0	0	9	0	0	9
Division of Human Genetics, Children's Hospital of Philadelphia	0	1	0	0	0	1

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