Submissions for variant NM_000095.3(COMP):c.2152C>A (p.Arg718=)

gnomAD frequency: 0.00081  dbSNP: rs28936368

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000948474	SCV001094686	benign	not provided	2023-12-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001127557	SCV001286880	benign	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001127558	SCV001286881	benign	Multiple epiphyseal dysplasia type 1	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000948474	SCV001881389	likely benign	not provided	2020-10-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279653	SCV002566463	likely benign	Connective tissue disorder	2022-07-15	criteria provided, single submitter	clinical testing