ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) (rs56102979)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572392 SCV000674453 benign Hereditary cancer-predisposing syndrome 2017-02-23 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
Illumina Clinical Services Laboratory,Illumina RCV000119181 SCV000481258 likely benign Gorlin syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405518 SCV000481259 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000119181 SCV000153914 benign Gorlin syndrome 2018-01-09 criteria provided, single submitter clinical testing

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