ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.91C>T (p.Arg31Trp)

gnomAD frequency: 0.00002  dbSNP: rs765460828
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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 RCV001330955 SCV001522827 uncertain significance Cardiac valvular defect, developmental 2019-03-28 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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