ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) (rs2227968)

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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 RCV000492699 SCV000581030 benign Hereditary cancer-predisposing syndrome 2015-01-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation 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 RCV000034573 SCV000043448 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121896 SCV000086099 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000309514 SCV000481260 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119163 SCV000481261 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119163 SCV000153889 benign Gorlin syndrome 2018-01-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121896 SCV000303355 benign not specified criteria provided, single submitter clinical testing

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