ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)

gnomAD frequency: 0.00050  dbSNP: rs137909349
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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 RCV000908985 SCV001053772 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502718 SCV002811166 likely benign Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2021-07-27 criteria provided, single submitter clinical testing

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