ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) (rs3134031)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000114244 SCV000615822 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000114244 SCV000147802 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.
Illumina Clinical Services Laboratory,Illumina RCV000278248 SCV000475343 benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323495 SCV000475344 benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378100 SCV000475345 benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114244 SCV000316329 benign not specified criteria provided, single submitter clinical testing

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