ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.10775C>G (p.Ser3592Cys)

gnomAD frequency: 0.00001  dbSNP: rs782744389
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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 RCV000709847 SCV000840179 not provided HUWE1-Related Disorder no assertion provided phenotyping only 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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