ClinVar Miner

Submissions for variant NM_001177316.2(SLC34A3):c.448+5G>A

gnomAD frequency: 0.00001  dbSNP: rs768893184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000512837 SCV000608390 likely pathogenic Autosomal recessive hypophosphatemic bone disease 2013-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000512837 SCV005675357 uncertain significance Autosomal recessive hypophosphatemic bone disease 2024-06-14 criteria provided, single submitter clinical testing

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