ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)

dbSNP: rs2472452131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461751 SCV004197980 likely pathogenic Senior-Loken syndrome 5 2023-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003461751 SCV005657351 likely pathogenic Senior-Loken syndrome 5 2024-05-17 criteria provided, single submitter clinical testing

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