ClinVar Miner

Submissions for variant NM_002778.3(PSAP):c.-50G>T

gnomAD frequency: 0.00004  dbSNP: rs886047154
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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 RCV000278698 SCV000364219 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336145 SCV000364220 uncertain significance Combined PSAP deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399236 SCV000364221 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301040 SCV000364222 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing

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