ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=)

gnomAD frequency: 0.13947  dbSNP: rs2248829
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521524 SCV001730884 benign Atypical glycine encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001536255 SCV001752986 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536255 SCV005281402 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980606 SCV004790699 benign SLC6A9-related disorder 2021-03-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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