ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38007970)_(39747620_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000149563 SCV000196062 pathogenic Seizure; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2014-09-09 no assertion criteria provided clinical testing

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