ClinVar Miner

Submissions for variant NM_001031689.3(PLAA):c.1486+6A>T

gnomAD frequency: 0.00158  dbSNP: rs189073379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176149 SCV002478010 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494509 SCV002803021 likely benign Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 2021-07-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002176149 SCV002821937 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PLAA: BP4, BS2

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