ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2286C>T (p.Asn762=) (rs143305989)

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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 RCV000566825 SCV000674472 likely benign Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000605418 SCV000721774 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000387383 SCV000481296 uncertain significance Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123011 SCV000481297 uncertain significance Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123011 SCV000166306 likely benign Gorlin syndrome 2017-10-19 criteria provided, single submitter clinical testing

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