ClinVar Miner

Submissions for variant NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) (rs56023271)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575546 SCV000674459 likely benign Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034579 SCV000043442 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000121903 SCV000514307 benign not specified 2015-08-19 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.
ITMI RCV000121903 SCV000086107 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000123037 SCV000481240 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340228 SCV000481241 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123037 SCV000166332 benign Gorlin syndrome 2017-12-29 criteria provided, single submitter clinical testing

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