ClinVar Miner

Submissions for variant GRCh38/hg38 18p11.31(chr18:3447721-3451783)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 14 RCV000052074 SCV000079423 likely pathogenic See cases 2017-08-30 criteria provided, single submitter clinical testing Patient does not have HPE, but has developmental delay, Cleft Palate, microcephaly, a concern for ptosis in the right eye, left facial nerve palsy, and facial asymmetry.

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