ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.288G>A (p.Arg96=)

gnomAD frequency: 0.00005  dbSNP: rs752194539
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703725 SCV000522615 likely benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Invitae RCV000867248 SCV001008452 benign Charcot-Marie-Tooth Neuropathy X 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022362 SCV002751324 likely benign Nephrolithiasis/nephrocalcinosis 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002502521 SCV002812441 likely benign Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity 2021-09-29 criteria provided, single submitter clinical testing

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