ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg)

gnomAD frequency: 0.00001  dbSNP: rs770557903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi RCV001843687 SCV002102793 likely pathogenic Fanconi renotubular syndrome 2 2022-03-07 criteria provided, single submitter clinical testing

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