ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu)

gnomAD frequency: 0.01893  dbSNP: rs111230322
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000372512 SCV000456321 likely benign Frank-Ter Haar syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga) RCV000596608 SCV000705643 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000946899 SCV001093056 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000946899 SCV001944709 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22509100)
PreventionGenetics, part of Exact Sciences RCV003912504 SCV004746096 likely benign SH3PXD2B-related disorder 2019-06-19 criteria provided, single submitter 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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