ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1746C>T (p.Tyr582=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002938541 SCV003264540 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-06-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434523 SCV004149997 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing WDR19: BP4, BP7

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