ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) (rs144942998)

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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 RCV000304205 SCV000364179 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345088 SCV000364180 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393668 SCV000364181 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310181 SCV000364182 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing

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