ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1259+1G>T

dbSNP: rs146095590
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668821 SCV000793486 likely pathogenic Salla disease 2017-08-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668821 SCV005056758 likely pathogenic Salla disease 2024-03-20 criteria provided, single submitter clinical testing

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