ClinVar Miner

Submissions for variant NM_002778.3(PSAP):c.-65C>T

gnomAD frequency: 0.00785  dbSNP: rs145948209
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329668 SCV000364231 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386588 SCV000364232 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294630 SCV000364233 likely benign Combined PSAP deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000333211 SCV000364234 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV002285306 SCV002575336 likely benign not provided 2019-06-12 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002285306 SCV003916608 benign not provided 2023-03-01 criteria provided, single submitter clinical testing PSAP: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002285306 SCV005221176 likely benign not provided criteria provided, single submitter not provided

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