ClinVar Miner

Submissions for variant NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) (rs73527759)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034686 SCV000043460 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
GeneDx RCV000121908 SCV000524414 benign not specified 2016-10-24 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 RCV000121908 SCV000086112 not provided not specified 2013-09-19 no assertion provided reference population

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