ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.504-4A>G

gnomAD frequency: 0.00020  dbSNP: rs138920776
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000389449 SCV000472717 uncertain significance Farber lipogranulomatosis 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289242 SCV001476927 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001289242 SCV002360385 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523652 SCV003549454 uncertain significance Inborn genetic diseases 2021-10-19 criteria provided, single submitter clinical testing The c.504-4A>G intronic alteration consists of a A to G substitution 4 nucleotides before exon 8 of the ASAH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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