ClinVar Miner

Submissions for variant NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)

gnomAD frequency: 0.00006  dbSNP: rs200188041
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001464478 SCV001668449 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501613 SCV002805868 likely benign Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001464478 SCV005074630 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SLC34A1: BP4, BP7

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