ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.613+2T>A

dbSNP: rs1554164078
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666942 SCV000791319 likely pathogenic Salla disease 2017-05-09 criteria provided, single submitter clinical testing

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