ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2])

dbSNP: rs534091900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000407673 SCV000337313 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000421697 SCV000510999 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000421697 SCV001112459 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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