ClinVar Miner

Variants studied for Deafness, autosomal dominant 1; Seizures, cortical blindness, and microcephaly syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
5 1 158 103 24 291

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 total
DIAPH1 5 1 157 103 24 290
ANKHD1, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CXXC5, CYSTM1, DIAPH1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HNRNPA0, HSPA9, IGIP, IK, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PFDN1, PKD2L2, PROB1, PSD2, PURA, REEP2, SIL1, SLC23A1, SLC25A2, SLC35A4, SLC4A9, SNHG4, SPATA24, SPOCK1, SRA1, STING1, TAF7, TMCO6, UBE2D2, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, WNT8A, ZMAT2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 1 158 103 24 291
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2

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