ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) (rs115556836)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568375 SCV000674475 benign Hereditary cancer-predisposing syndrome 2016-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034564 SCV000043456 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034564 SCV000610956 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078462 SCV000110318 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
ITMI RCV000078462 SCV000086087 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000270753 SCV000481308 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206005 SCV000481309 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206005 SCV000260866 benign Gorlin syndrome 2018-01-12 criteria provided, single submitter clinical testing
OMIM RCV000008705 SCV000028914 pathogenic Holoprosencephaly 7 2006-12-01 no assertion criteria provided literature only
PreventionGenetics RCV000078462 SCV000303333 benign not specified criteria provided, single submitter clinical testing

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