ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.1752+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003594708 SCV004244559 likely pathogenic Alkuraya-Kucinskas syndrome 2023-12-13 criteria provided, single submitter clinical testing PVS1, PM2

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