ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr)

gnomAD frequency: 0.00004  dbSNP: rs755836698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001262001 SCV001439364 uncertain significance Alkuraya-Kucinskas syndrome 2020-07-31 criteria provided, single submitter research ACMG codes:PM2, PP3, PP4

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