ClinVar Miner

Submissions for variant NM_001031717.4(CRELD1):c.820_821TG[1] (p.Ala275fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000782366 SCV000920386 likely pathogenic Atrioventricular septal defect 2 2019-01-01 criteria provided, single submitter research The same individual also harbours another variant g.[1807188G>A] in FGFR3 gene

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