ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)

gnomAD frequency: 0.00159  dbSNP: rs35450949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003762800 SCV000655710 benign Myoclonic-atonic epilepsy 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315028 SCV000848675 likely benign Inborn genetic diseases 2017-01-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000544573 SCV001145702 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000544573 SCV001837590 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000544573 SCV004146946 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SLC6A1: BP4, BP7, BS1

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