ClinVar Miner

Variants studied for Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Hypospadias, penile; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 total
0 0 1 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination uncertain significance total
LSM1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance total
Wendy Chung Laboratory,Columbia University Medical Center 1 1

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