ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)

dbSNP: rs760621775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271167 SCV000364087 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000328597 SCV000364088 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380910 SCV000364089 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288610 SCV000364090 uncertain significance Combined PSAP deficiency 2016-06-14 criteria provided, single submitter clinical testing

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