ClinVar Miner

Submissions for variant NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) (rs202111971)

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Total submissions: 2
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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 RCV000034685 SCV000043461 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121907 SCV000086111 not provided not specified 2013-09-19 no assertion provided reference population

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