ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.647+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340828 SCV004047587 likely pathogenic Hereditary spherocytosis type 2 criteria provided, single submitter clinical testing The c.647+1G>A splice site variant in SPTB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.647+1G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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