ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1278C>T (p.Asn426=) (rs777227555)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299749 SCV000364079 uncertain significance Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356874 SCV000364080 uncertain significance Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259660 SCV000364081 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317255 SCV000364082 uncertain significance Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing

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