ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)

gnomAD frequency: 0.00406  dbSNP: rs34704118
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193494 SCV000248059 uncertain significance not specified 2014-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000892344 SCV001036208 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892344 SCV001371471 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing MPDZ: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003927792 SCV004742642 benign MPDZ-related disorder 2019-09-18 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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