ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.127+64G>C

gnomAD frequency: 0.31118  dbSNP: rs1799918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527183 SCV001738121 benign Glutaric aciduria, type 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001598690 SCV001827805 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001598690 SCV005314746 benign not provided criteria provided, single submitter not provided

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