ClinVar Miner

Submissions for variant NM_000264.4(PTCH1):c.1119C>T (p.Tyr373=) (rs2066831)

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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 RCV000563581 SCV000674477 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 RCV000205090 SCV000481342 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312322 SCV000481343 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205090 SCV000260865 benign Gorlin syndrome 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245758 SCV000303324 benign not specified criteria provided, single submitter clinical testing

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