ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1452G>A (p.Ser484=) (rs114389264)

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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 RCV000308371 SCV000364059 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370087 SCV000364060 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277898 SCV000364061 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330576 SCV000364062 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974716 SCV001122562 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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