ClinVar Miner

Submissions for variant NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) (rs35910969)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000005588 SCV001140826 uncertain significance Nephrolithiasis/osteoporosis, hypophosphatemic, 2 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000005588 SCV000025770 pathogenic Nephrolithiasis/osteoporosis, hypophosphatemic, 2 2008-09-11 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000005588 SCV000733698 benign Nephrolithiasis/osteoporosis, hypophosphatemic, 2 no assertion criteria provided clinical testing

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