ClinVar Miner

Submissions for variant NM_002778.3(PSAP):c.-33T>C (rs143987544)

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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 RCV000386758 SCV000364215 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294131 SCV000364216 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351340 SCV000364217 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398978 SCV000364218 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing

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