ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=)

gnomAD frequency: 0.00001  dbSNP: rs780977371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005057402 SCV001640631 likely benign Epilepsy with myoclonic atonic seizures 2024-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405028 SCV002709869 likely benign Inborn genetic diseases 2017-09-06 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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