ClinVar Miner

Submissions for variant NM_020638.3(FGF23):c.751A>G (p.Ile251Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003292571 SCV003985266 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.751A>G (p.I251V) alteration is located in exon 3 (coding exon 3) of the FGF23 gene. This alteration results from a A to G substitution at nucleotide position 751, causing the isoleucine (I) at amino acid position 251 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012852 SCV005635039 uncertain significance Autosomal dominant hypophosphatemic rickets; Tumoral calcinosis, hyperphosphatemic, familial, 2 2024-04-24 criteria provided, single submitter clinical testing

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