ClinVar Miner

Submissions for variant NM_000095.3(COMP):c.1803T>C (p.Phe601=)

gnomAD frequency: 0.00004  dbSNP: rs753120962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001124533 SCV001283506 uncertain significance 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 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.
Illumina Laboratory Services, Illumina RCV001124534 SCV001283507 uncertain significance 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 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.
Invitae RCV002556699 SCV003485485 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing

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