ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1476T>C (p.Thr492=) (rs139178900)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000336521 SCV000364051 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407165 SCV000364052 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287337 SCV000364053 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340063 SCV000364054 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000904670 SCV001049201 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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