ClinVar Miner

Submissions for variant NM_012268.4(PLD3):c.694G>A (p.Val232Met)

gnomAD frequency: 0.00365  dbSNP: rs145999145
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV006445504 SCV007313012 benign not specified 2023-08-02 criteria provided, single submitter clinical testing BS1, BS2
CeGaT Center for Human Genetics Tuebingen RCV002055264 SCV004143746 benign not provided 2022-08-01 criteria provided, single submitter clinical testing PLD3: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002055264 SCV002440199 likely benign not provided 2026-01-26 criteria provided, single submitter clinical testing
OMIM RCV000106322 SCV000143883 uncertain significance Alzheimer disease 19 2014-01-23 no assertion criteria provided literature only

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