ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.250-5C>T

gnomAD frequency: 0.00022  dbSNP: rs370622849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890064 SCV001033787 likely benign Sphingolipid activator protein 1 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705880 SCV005221170 likely benign not provided criteria provided, single submitter not provided

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