ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.1982A>T (p.Asp661Val)

gnomAD frequency: 0.00005  dbSNP: rs762462912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765314 SCV001997964 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489770 SCV002780383 uncertain significance Cardiac valvular defect, developmental 2021-12-02 criteria provided, single submitter clinical testing

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