ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.1051C>T (p.Leu351Phe)

gnomAD frequency: 0.00011  dbSNP: rs3739757
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903143 SCV001047598 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903143 SCV005041986 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing MPDZ: PM2, BP4

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