ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.*935A>G (rs886047148)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000346885 SCV000364011 uncertain significance Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407853 SCV000364012 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307133 SCV000364013 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352616 SCV000364014 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing

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