ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.127C>T (p.Arg43Trp)

gnomAD frequency: 0.00001  dbSNP: rs267607046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity Omics RCV000000213 SCV002022572 likely pathogenic Frank-Ter Haar syndrome 2021-10-27 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000000213 SCV003807282 likely pathogenic Frank-Ter Haar syndrome 2022-03-23 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderated, PM3 moderated, PP3 supporting, PP4
OMIM RCV000000213 SCV000020356 pathogenic Frank-Ter Haar syndrome 2010-02-12 no assertion criteria provided literature only

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