Submissions for variant NM_000312.4(PROC):c.30C>T (p.Phe10=)

gnomAD frequency: 0.00059  dbSNP: rs148490199

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526936	SCV000646385	benign	Thrombophilia due to protein C deficiency, autosomal dominant	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000526936	SCV001294343	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV002225658	SCV002504232	likely benign	not provided	2020-01-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Mayo Clinic Laboratories, Mayo Clinic	RCV002225658	SCV002541856	uncertain significance	not provided	2022-02-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003451175	SCV004183520	uncertain significance	Thrombophilia due to protein C deficiency, autosomal recessive	2023-09-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915582	SCV004736539	likely benign	PROC-related disorder	2019-06-14	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).