ClinVar Miner

Variants studied for Melnick-Fraser 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
72 13 62 73 31 251

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EYA1 70 10 61 73 31 245
CLRN1 0 0 1 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581 1 0 0 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582 1 0 0 0 0 1
MIR9718, SIX1 0 1 0 0 0 1
TFAP2A 0 1 0 0 0 1
TJP2 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 71 10 61 73 31 246
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 1

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