ClinVar Miner

Submissions for variant NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser)

gnomAD frequency: 0.17465  dbSNP: rs2290480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683792 SCV001897668 benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789525 SCV002031575 benign Cardiac valvular defect, developmental 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683792 SCV002353653 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683792 SCV005306303 benign not provided criteria provided, single submitter not provided

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