ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.943C>G (p.Pro315Ala)

gnomAD frequency: 0.00649  dbSNP: rs61744447
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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 RCV000885984 SCV001029466 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885984 SCV004162399 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PCLO: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000885984 SCV005273602 benign not provided criteria provided, single submitter not provided

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