ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)

gnomAD frequency: 0.00002  dbSNP: rs769280736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502563 SCV000596200 uncertain significance not specified 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV001857140 SCV002202172 likely benign not provided 2023-05-10 criteria provided, single submitter clinical testing

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