ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.12G>C (p.Pro4=)

gnomAD frequency: 0.00001  dbSNP: rs1769990764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002085254 SCV002377910 likely benign Salla disease 2021-11-30 criteria provided, single submitter clinical testing

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