ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.660C>A (p.Ile220=)

dbSNP: rs760984163
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005056800 SCV001197728 benign Epilepsy with myoclonic atonic seizures 2024-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310474 SCV001500285 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363545 SCV002664453 likely benign Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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