ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.693del (p.Phe233fs)

dbSNP: rs1057516862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410694 SCV000486342 likely pathogenic Salla disease 2016-05-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410694 SCV004201232 likely pathogenic Salla disease 2022-10-29 criteria provided, single submitter clinical testing

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