ClinVar Miner

Submissions for variant NM_004252.4(SLC9A3R1):c.673G>A (p.Glu225Lys) (rs119486097)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454997 SCV000540389 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene has limited evidence for disease association. Variant reported in a patient with renal calcium lithiasis (Karim 2008), and one with Nephrolithiasis/Nephrocalcinosis (heterozygous, only variant in both cases. Gene is linlked to AD Nephrolithiasis) (Halbritter 2015). Frequency 2.2%.
OMIM RCV000005590 SCV000025772 pathogenic Nephrolithiasis/osteoporosis, hypophosphatemic, 2 2008-09-11 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000662330 SCV000784662 likely pathogenic Nephrolithiasis; Hypophosphatemia 2017-09-08 no assertion criteria provided literature only

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