ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1986G>A (p.Thr662=) (rs201103723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251671 SCV000303334 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310749 SCV000481306 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363171 SCV000481307 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000877966 SCV001020789 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing

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