ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) (rs749660716)

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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 RCV000407182 SCV000364055 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309664 SCV000364056 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366675 SCV000364057 uncertain significance Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402799 SCV000364058 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing

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