ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.*468C>T (rs7398298)

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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 RCV000261262 SCV000376902 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332774 SCV000376903 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384445 SCV000483337 benign Cutis laxa, recessive 2016-06-14 criteria provided, single submitter clinical testing

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