ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.107C>T (p.Pro36Leu)

dbSNP: rs111033645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175533 SCV000227035 uncertain significance not provided 2015-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000175533 SCV005881983 likely pathogenic not provided 2024-09-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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