ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.808C>T (p.Arg270Cys)

gnomAD frequency: 0.00001  dbSNP: rs745672569
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665159 SCV001874852 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing Reported in a patient with neurodevelopmental disorders in published literature, however detailed clinical and segregation information was not provided (Zhang et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33860439)

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