ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)

dbSNP: rs782250326
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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 RCV001167363 SCV001329853 uncertain significance Adrenoleukodystrophy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001167363 SCV001725456 benign Adrenoleukodystrophy 2023-09-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001167363 SCV002045763 benign Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001167363 SCV002084620 likely benign Adrenoleukodystrophy 2020-06-07 no assertion criteria provided clinical testing

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