ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.18C>T (p.Gly6=)

gnomAD frequency: 0.00002  dbSNP: rs1032255653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000934943 SCV001080677 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2023-04-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112384 SCV001270040 uncertain significance Focal segmental glomerulosclerosis 5 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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