ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1086dup (p.Met363fs)

dbSNP: rs1064793474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485698 SCV000566213 pathogenic not provided 2015-04-09 criteria provided, single submitter clinical testing This c.1086dupC duplication is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, we interpret it as pathogenic.

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