ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1268del (p.Leu423fs)

dbSNP: rs1564815053
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Experimental Endocrinology, Slovak Academy of Sciences RCV000755007 SCV000809016 pathogenic Sphingolipid activator protein 1 deficiency 2018-08-01 criteria provided, single submitter clinical testing Observed in compound heterozygosity with NM_002778.2:c.679_681del.

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