ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.471+67C>T

gnomAD frequency: 0.00426  dbSNP: rs150874351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541627 SCV001759646 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001541627 SCV004146941 benign not provided 2024-04-01 criteria provided, single submitter clinical testing SLC6A1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001541627 SCV005264533 likely benign not provided criteria provided, single submitter not provided

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