ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.636-6C>T

dbSNP: rs2129903875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131285 SCV002457912 likely benign Glycine encephalopathy 2021-03-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046578 SCV004876285 uncertain significance Inborn genetic diseases 2023-11-20 criteria provided, single submitter clinical testing The c.636-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before coding exon 5 in the GLDC gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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