ClinVar Miner

Variants studied for Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome

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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
35 11 452 309 45 839

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LAMB2 34 11 438 305 44 820
LAMB2, LOC129936738 0 0 14 4 1 18
AMT, C3orf62, CCDC71, CIMIP7, DAG1, GPX1, IHO1, KLHDC8B, LAMB2, NICN1, RHOA, TCTA, USP4 1 0 0 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 35 8 446 299 45 833
Fulgent Genetics, Fulgent Genetics 2 3 110 30 3 148
3billion 0 0 0 4 0 4

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