ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1193-18C>T

gnomAD frequency: 0.00011  dbSNP: rs200988983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002204245 SCV002491930 benign Sphingolipid activator protein 1 deficiency 2024-11-07 criteria provided, single submitter clinical testing

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