ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr)

gnomAD frequency: 0.00001  dbSNP: rs1714706978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336488 SCV001529885 uncertain significance Cardiac valvular defect, developmental 2018-05-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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