ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)

gnomAD frequency: 0.00010  dbSNP: rs768939354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913299 SCV001058444 likely benign not provided 2024-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479058 SCV002797945 likely benign Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2021-09-13 criteria provided, single submitter clinical testing

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