ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.255dup (p.Ser86fs)

dbSNP: rs1598050118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008562 SCV001168335 pathogenic not provided 2022-07-07 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33522091)
Mendelics RCV002249626 SCV002517943 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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