ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser)

gnomAD frequency: 0.00701  dbSNP: rs116803293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890687 SCV001034452 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145267 SCV001305917 benign Bruck syndrome 2 2017-12-27 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 RCV000890687 SCV001790557 likely benign not provided 2022-05-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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