ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1288+46C>T

gnomAD frequency: 0.01390  dbSNP: rs73694952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114241 SCV000316325 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834508 SCV000976277 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000834508 SCV005264924 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114241 SCV000147799 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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