ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.322C>T (p.His108Tyr) (rs756897517)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000361360 SCV000477351 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396856 SCV000477352 uncertain significance Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing

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