ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.876T>C (p.His292=) (rs2066832)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572641 SCV000674476 likely benign Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000203786 SCV000481344 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405305 SCV000481345 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203786 SCV000260864 benign Gorlin syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000254364 SCV000303323 benign not specified criteria provided, single submitter clinical testing

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