ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu)

dbSNP: rs1756757651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171971 SCV001334894 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331474 SCV001523516 uncertain significance Frank-Ter Haar syndrome 2019-09-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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