ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1781_1803+3delinsCA

dbSNP: rs1064796833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486422 SCV000573945 likely pathogenic not provided 2021-10-13 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33517344)

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