ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.570G>T (p.Gln190His) (rs142272618)

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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 RCV000320602 SCV000364131 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379808 SCV000364132 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285482 SCV000364133 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345152 SCV000364134 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974717 SCV001122563 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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