ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.2667A>C (p.Val889=)

gnomAD frequency: 0.52060  dbSNP: rs9881788
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536625 SCV001753407 benign not provided 2019-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789424 SCV002031564 benign Cardiac valvular defect, developmental 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001536625 SCV002340627 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536625 SCV005306291 benign not provided criteria provided, single submitter not provided

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