ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) (rs200008050)

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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 RCV000374243 SCV000364175 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284356 SCV000364176 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339496 SCV000364177 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390195 SCV000364178 uncertain significance Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing

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