ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)

dbSNP: rs886041999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000406960 SCV000330825 pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33131045, 33677721)
OMIM RCV001838996 SCV002098949 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-02-24 no assertion criteria provided literature only

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