ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)

gnomAD frequency: 0.00909  dbSNP: rs76354303
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954065 SCV001100672 benign Atypical glycine encephalopathy 2025-02-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311924 SCV004009839 benign not provided 2024-09-01 criteria provided, single submitter clinical testing SLC6A9: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003311924 SCV005281398 benign not provided criteria provided, single submitter not provided

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