ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11785+1_11785+35del

dbSNP: rs761547193
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734343 SCV000862474 uncertain significance not provided 2018-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000734343 SCV003921604 likely pathogenic not provided 2022-06-15 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003465668 SCV004204639 likely pathogenic Polycystic kidney disease 4 2023-06-06 criteria provided, single submitter clinical testing

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