ClinVar Miner

Submissions for variant NM_001031689.3(PLAA):c.957C>T (p.His319=)

gnomAD frequency: 0.01286  dbSNP: rs112768524
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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 RCV000961923 SCV001108979 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489360 SCV002799445 likely benign Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 2022-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000961923 SCV005271900 benign not provided criteria provided, single submitter not provided

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