ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.1381-2A>G

dbSNP: rs1579206545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991428 SCV001142825 likely pathogenic Alkuraya-Kucinskas syndrome 2019-06-20 criteria provided, single submitter clinical testing

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