ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1542C>T (p.Ser514=)

dbSNP: rs2249057
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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 RCV001140388 SCV001300641 benign Microcephalic osteodysplastic primordial dwarfism type II 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). 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics RCV001140388 SCV002795598 likely benign Microcephalic osteodysplastic primordial dwarfism type II 2021-12-20 criteria provided, single submitter clinical testing
Invitae RCV003718359 SCV004514913 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing

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