ClinVar Miner

Variants studied for Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect

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 3 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination uncertain significance total
OBSL1 2 2
RYR1 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 3 3

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