ClinVar Miner

Submissions for variant NM_024867.4(SPEF2):c.1262G>A (p.Arg421His)

gnomAD frequency: 0.00656  dbSNP: rs139580877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454920 SCV000540429 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Candidate PCD gene, but frequency is high
CeGaT Center for Human Genetics Tuebingen RCV003326432 SCV004032590 benign not provided 2024-08-01 criteria provided, single submitter clinical testing SPEF2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003326432 SCV005189457 uncertain significance not provided criteria provided, single submitter not provided

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