Submissions for variant NM_020638.3(FGF23):c.583C>T (p.Pro195Ser)

gnomAD frequency: 0.00310  dbSNP: rs13312793

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000711630	SCV000842014	benign	not provided	2018-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV000711630	SCV001109531	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114922	SCV001272845	benign	Autosomal dominant hypophosphatemic rickets	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001114924	SCV001272847	likely benign	Tumoral calcinosis, hyperphosphatemic, familial, 2	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000711630	SCV001805469	likely benign	not provided	2019-04-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18982401)