ClinVar Miner

Submissions for variant NC_000020.10:g.13448380_13597783del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000782285 SCV000920570 likely pathogenic Multiple congenital anomalies; Distinctive facial features; Developmental delay 2017-10-19 criteria provided, single submitter clinical testing
OMIM RCV001250725 SCV001425595 pathogenic Suleiman-El-Hattab syndrome 2020-07-28 no assertion criteria provided literature only

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