ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His) (rs753002023)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000513814 SCV000284321 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513814 SCV000610983 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563327 SCV000674454 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764847 SCV000896003 uncertain significance Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000513814 SCV000970104 likely benign not provided 2018-06-06 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.

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