ClinVar Miner

Submissions for variant NM_177924.5(ASAH1):c.372T>A (p.Asp124Glu)

gnomAD frequency: 0.03317  dbSNP: rs2472205
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375398 SCV000472720 benign Farber lipogranulomatosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000516525 SCV000612411 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Invitae RCV000675805 SCV001723640 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675805 SCV001943455 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675805 SCV000801527 benign not provided 2017-03-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000516525 SCV001923085 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000516525 SCV001927082 benign not specified no assertion criteria provided clinical testing

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