ClinVar Miner

Submissions for variant NM_138927.4(SON):c.6321+1G>A

dbSNP: rs2085987512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249690 SCV001423687 pathogenic ZTTK syndrome 2019-02-12 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2].
GeneDx RCV005001188 SCV005626602 pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele 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: 32371413, 37789688)

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