ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.508_509del (p.Asp170fs)

dbSNP: rs886039861
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003223927 SCV003919443 pathogenic not provided 2022-10-18 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: 30820006, 23033313, 29520754, 20818665)

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