ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.1326C>T (p.Leu442=)

gnomAD frequency: 0.00001  dbSNP: rs748650244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877532 SCV001020277 likely benign Thrombophilia due to protein C deficiency, autosomal dominant 2023-09-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000877532 SCV001294451 uncertain significance Thrombophilia due to protein C deficiency, autosomal dominant 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.
PreventionGenetics, part of Exact Sciences RCV003930448 SCV004737594 likely benign PROC-related disorder 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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