ClinVar Miner

Submissions for variant GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001825190 SCV002074876 not provided Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-12-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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