ClinVar Miner

Submissions for variant NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu) (rs886037856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000239477 SCV000323247 likely pathogenic Camptosynpolydactyly, complex 2015-01-01 criteria provided, single submitter research
OMIM RCV000239477 SCV000297963 pathogenic Camptosynpolydactyly, complex 2016-07-25 no assertion criteria provided literature only

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