ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9510+13C>T (rs183692794)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000346745 SCV000483087 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380976 SCV000483088 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286477 SCV000483089 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341426 SCV000483090 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155615 SCV000205323 benign not specified 2013-04-04 criteria provided, single submitter clinical testing The 9510+13C>T variant in intron 67 of CDH23: This variant is not expected to ha ve clinical significance because it has been identified in 8% (16/192) of Africa n chromosomes by the 1000 Genome Project (dbSNP rs183692794).
PreventionGenetics RCV000155615 SCV000314005 benign not specified criteria provided, single submitter clinical testing

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