ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys)

gnomAD frequency: 0.00004  dbSNP: rs387907503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477178 SCV002782751 uncertain significance Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2024-06-18 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054710 SCV000077400 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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