ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.10079C>G (p.Thr3360Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133863 SCV003812119 uncertain significance Alkuraya-Kucinskas syndrome 2024-01-11 criteria provided, single submitter clinical testing

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