ClinVar Miner

Submissions for variant NM_003922.4(HERC1):c.4906-2A>C (rs797045141)

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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 RCV000190895 SCV000245769 likely pathogenic Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability 2015-08-01 criteria provided, single submitter research
OMIM RCV000235008 SCV000292377 pathogenic Macrocephaly, dysmorphic facies, and psychomotor retardation 2016-08-04 no assertion criteria provided literature only

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