ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306150 SCV002599891 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002306150 SCV003509287 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing

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