ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003489423 SCV004238664 likely pathogenic not provided 2023-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036835 SCV005671573 likely pathogenic Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-06-21 criteria provided, single submitter clinical testing

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