ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.*45G>A (rs142969969)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296694 SCV000376888 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349350 SCV000376889 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386465 SCV000483331 likely benign Cutis laxa, recessive 2016-06-14 criteria provided, single submitter clinical testing

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