ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)

gnomAD frequency: 0.00033  dbSNP: rs151201945
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000299483 SCV000481973 benign Adrenoleukodystrophy 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000299483 SCV001020615 benign Adrenoleukodystrophy 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000299483 SCV002045874 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001355186 SCV005274926 benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355186 SCV001549996 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 1.286% in gnomAD_ExomesFounderPop) based on the frequency threshold of 0.772% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease.
Natera, Inc. RCV000299483 SCV002084651 likely benign Adrenoleukodystrophy 2019-12-06 no assertion criteria provided clinical testing

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