ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1743-137G>A

gnomAD frequency: 0.00993  dbSNP: rs55679135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577664 SCV001805082 likely benign not provided 2018-08-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001577664 SCV002544730 benign not provided 2023-07-01 criteria provided, single submitter clinical testing PLA2G6: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001577664 SCV005206456 likely benign not provided criteria provided, single submitter not provided

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