ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) (rs138911275)

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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 RCV000574977 SCV000674462 likely benign Hereditary cancer-predisposing syndrome 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034570 SCV000043451 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
CSER_CC_NCGL; University of Washington Medical Center RCV000148761 SCV000190498 likely benign Holoprosencephaly sequence 2014-06-01 no assertion criteria provided research
GeneDx RCV000121888 SCV000514302 likely benign not specified 2017-10-17 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 RCV000121888 SCV000086091 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000119145 SCV000153864 likely benign Gorlin syndrome 2018-01-09 criteria provided, single submitter clinical testing
OMIM RCV000008707 SCV000028916 pathogenic Holoprosencephaly 7 2006-12-01 no assertion criteria provided literature only

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