ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.2569A>G (p.Ile857Val)

gnomAD frequency: 0.00062  dbSNP: rs143219477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336490 SCV001529887 uncertain significance Cardiac valvular defect, developmental 2018-10-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003558815 SCV004277851 likely benign not provided 2023-05-15 criteria provided, single submitter clinical testing

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