ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)

gnomAD frequency: 0.00241  dbSNP: rs61733177
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892105 SCV001035962 likely benign Atypical glycine encephalopathy 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711375 SCV005259802 likely benign not provided criteria provided, single submitter not provided

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