ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003224049 SCV003919680 likely pathogenic not provided 2023-04-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 28 amino acids are replaced with 2 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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