ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.12692G>C (p.Ser4231Thr)

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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 RCV003133864 SCV003812120 uncertain significance Alkuraya-Kucinskas syndrome 2019-10-24 criteria provided, single submitter clinical testing

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