ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) (rs374924167)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372824 SCV000481316 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285356 SCV000481317 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000285356 SCV000622930 likely benign Gorlin syndrome 2017-07-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241971 SCV000303329 likely benign not specified criteria provided, single submitter clinical testing

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