ClinVar Miner

Submissions for variant GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington RCV000790594 SCV000929946 likely pathogenic See cases 2018-10-25 criteria provided, single submitter clinical testing Patient also had pathogenic variant in SOS1 (c.806 T>Cp.Met269Thr) causing Noonan syndrome and was compound heterozygous for pathogenic variants in BTD (c.1330 G>C p.Asp444His and c.1368 A>C p.Gln456His) causing mild biotinidase deficiency

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