ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.999C>T (p.Phe333=)

gnomAD frequency: 0.00002  dbSNP: rs138166453
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003762801 SCV000655712 benign Myoclonic-atonic epilepsy 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315029 SCV000848908 likely benign Inborn genetic diseases 2017-02-03 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.
GeneDx RCV001692195 SCV001906998 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001692195 SCV004146947 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing SLC6A1: BP4, BP7, BS1

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