ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1350+1G>A

dbSNP: rs1057516951
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411919 SCV000486489 likely pathogenic Salla disease 2016-06-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411919 SCV005056764 likely pathogenic Salla disease 2024-02-13 criteria provided, single submitter clinical testing

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