ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.853-2A>G

dbSNP: rs1057517410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410275 SCV000487235 likely pathogenic Glutaric aciduria, type 1 2016-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410275 SCV004199219 pathogenic Glutaric aciduria, type 1 2023-08-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000410275 SCV004805152 pathogenic Glutaric aciduria, type 1 2024-03-17 criteria provided, single submitter research

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