ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.383T>A (p.Val128Asp)

gnomAD frequency: 0.00002  dbSNP: rs759826596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000273121 SCV000341624 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494873 SCV002793606 uncertain significance Autosomal recessive hypophosphatemic bone disease 2021-12-03 criteria provided, single submitter clinical testing

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