ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1975C>T (p.Pro659Ser) (rs149258400)

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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 RCV000492416 SCV000581043 likely benign Hereditary cancer-predisposing syndrome 2018-05-03 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/Clinical Genomics Section,National Institutes of Health RCV000034563 SCV000043457 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000121884 SCV000514297 benign not specified 2015-09-18 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 RCV000121884 SCV000086086 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000123006 SCV000166301 benign Gorlin syndrome 2018-01-18 criteria provided, single submitter clinical testing

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