ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.626C>A (p.Pro209His)

gnomAD frequency: 0.00003  dbSNP: rs200343855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907276 SCV001051971 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824906 SCV002074872 not provided Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-10-2017 by Lab or GTR ID 1006. 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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