ClinVar Miner

Variants studied for Left ventricular noncompaction 8

Coded as:
Minimum submission review status: Collection method:
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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 4 553 454 66 1073

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PRDM16 5 4 547 450 66 1063
LOC124903827, PRDM16 0 0 2 4 0 6
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 3 0 0 3
LOC105378604, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, LOC121967052, LOC124903827, LOC126805583, LOC126805584, LOC126805585, LOC132088690, LOC132088694, LOC132090658, MIR4251, PRDM16 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 542 451 64 1057
Fulgent Genetics, Fulgent Genetics 0 0 19 6 2 27
Revvity Omics, Revvity 0 0 6 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 3
New York Genome Center 0 0 3 0 0 3
Baylor Genetics 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1

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