ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=)

gnomAD frequency: 0.00004  dbSNP: rs370525113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357494 SCV000456318 uncertain significance Frank-Ter Haar syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061274 SCV002360272 likely benign not provided 2024-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957821 SCV004767628 likely benign SH3PXD2B-related disorder 2019-11-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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